Variant ID: 12-102590816-T-C

NM_002674.2(PMCH):c.383A>G;(p.Glu128Gly)

This variant was identified in 1 publication




Publications:


Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.

Bmj Open
J Zhang, J He, X Mao, X Zeng, H Chen, J Su, B Zhu
Publication Date: 2017-01-31

Variant appearance in text: MCH: 383A>G
PubMed Link: 28143837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
NM_001319993.1 c.*747T>C - 3_prime_UTR_variant 12/12 -
ENST00000327680.2 c.*747T>C - 3_prime_UTR_variant 12/12 -
ENST00000329406.4 c.383A>G p.Glu128Gly missense_variant 2/3 -
ENST00000378128.3 c.*1015T>C - 3_prime_UTR_variant 7/7 -
ENST00000412715.2 c.*1015T>C - 3_prime_UTR_variant 6/6 -
ENST00000417507.2 c.*1079T>C - 3_prime_UTR_variant 7/7 -
ENST00000457614.2 c.*1801T>C - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000535811.1 n.1142T>C - non_coding_transcript_exon_variant 2/2 -
NM_001319988.1 c.*747T>C - 3_prime_UTR_variant 12/12 -
NM_001319994.1 c.*747T>C - 3_prime_UTR_variant 11/11 -
NM_002674.4 c.383A>G p.Glu128Gly missense_variant 2/3 -
NM_017915.4 c.*747T>C - 3_prime_UTR_variant 11/11 -
NR_135123.1 n.1686T>C - non_coding_transcript_exon_variant 5/5 -