HGVS | Genome Assembly |
---|---|
NC_000002.12:g.219060301A>T , CM000664.2:g.219060301A>T | GRCh38 |
NC_000002.11:g.219925023A>T , CM000664.1:g.219925023A>T | GRCh37 |
NC_000002.10:g.219633267A>T | NCBI36 |
NG_016741.1:g.5216T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295731.7:c.167T>A MANE Select | ENSP00000295731.5:p.Val56Glu | |
ENST00000295731.6:c.167T>A | ENSP00000295731.5:p.Val56Glu | |
NM_002181.3:c.167T>A | NP_002172.2:p.Val56Glu | |
NM_002181.4:c.167T>A MANE Select | NP_002172.2:p.Val56Glu |