HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186122952T>A , CM000663.2:g.186122952T>A | GRCh38 |
NC_000001.10:g.186092084T>A , CM000663.1:g.186092084T>A | GRCh37 |
NC_000001.9:g.184358707T>A | NCBI36 |
NG_011841.1:g.393402T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271588.9:c.12231T>A MANE Select | ENSP00000271588.4:p.Val4077= | |
ENST00000271588.8:c.12231T>A | ENSP00000271588.4:p.Val4077= | |
NM_031935.2:c.12231T>A | NP_114141.2:p.Val4077= | |
XM_011510037.1:c.11946T>A | XP_011508339.1:p.Val3982= | |
XM_011510038.1:c.12231T>A | XP_011508340.1:p.Val4077= | |
XM_011510039.1:c.12231T>A | XP_011508341.1:p.Val4077= | |
XM_011510038.3:c.12231T>A | XP_011508340.1:p.Val4077= | |
XM_017002437.1:c.10254T>A | XP_016857926.1:p.Val3418= | |
NM_031935.3:c.12231T>A MANE Select | NP_114141.2:p.Val4077= |