HGVS | Genome Assembly |
---|---|
NC_000009.12:g.91726701A>T , CM000671.2:g.91726701A>T | GRCh38 |
NC_000009.11:g.94488983A>T , CM000671.1:g.94488983A>T | GRCh37 |
NC_000009.10:g.93528804A>T | NCBI36 |
NG_008089.1:g.228462T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375708.4:c.1226T>A MANE Select | ENSP00000364860.3:p.Val409Asp | |
ENST00000375708.3:c.1226T>A | ENSP00000364860.3:p.Val409Asp | |
ENST00000375715.5:c.806T>A | ENSP00000364867.1:p.Val269Asp | |
ENST00000550066.5:n.1694T>A | ||
NM_004560.3:c.1226T>A | NP_004551.2:p.Val409Asp | |
XM_005252008.3:c.806T>A | XP_005252065.1:p.Val269Asp | |
XM_005252009.3:c.23T>A | XP_005252066.1:p.Val8Asp | |
XM_006717121.2:c.806T>A | XP_006717184.1:p.Val269Asp | |
XM_011518721.1:c.806T>A | XP_011517023.1:p.Val269Asp | |
NM_001318204.1:c.1192T>A | NP_001305133.1:p.Ser398Thr | |
XM_005252008.4:c.806T>A | XP_005252065.1:p.Val269Asp | |
XM_006717121.3:c.806T>A | XP_006717184.1:p.Val269Asp | |
XM_017014762.1:c.1217T>A | XP_016870251.1:p.Val406Asp | |
XM_017014763.1:c.806T>A | XP_016870252.1:p.Val269Asp | |
XR_001746315.1:n.1435T>A | ||
NM_004560.4:c.1226T>A MANE Select | NP_004551.2:p.Val409Asp | |
NM_001318204.2:c.1192T>A | NP_001305133.1:p.Ser398Thr |