HGVS | Genome Assembly |
---|---|
NC_000003.12:g.185192501G>A , CM000665.2:g.185192501G>A | GRCh38 |
NC_000003.11:g.184910289G>A , CM000665.1:g.184910289G>A | GRCh37 |
NC_000003.10:g.186392983G>A | NCBI36 |
NG_015999.1:g.66598C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231887.8:c.1897C>T MANE Select | ENSP00000231887.3:p.Arg633Cys | |
ENST00000231887.7:c.1897C>T | ENSP00000231887.3:p.Arg633Cys | |
ENST00000456310.5:c.1609C>T | ENSP00000387746.1:p.Arg537Cys | |
NM_001166415.1:c.1609C>T | NP_001159887.1:p.Arg537Cys | |
NM_001966.3:c.1897C>T | NP_001957.2:p.Arg633Cys | |
XM_006713525.1:c.1273C>T | XP_006713588.1:p.Arg425Cys | |
XM_011512517.1:c.1609C>T | XP_011510819.1:p.Arg537Cys | |
NM_001966.4:c.1897C>T MANE Select | NP_001957.2:p.Arg633Cys | |
NM_001166415.2:c.1609C>T | NP_001159887.1:p.Arg537Cys |