HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114674681A= , CM000674.2:g.114674681A= | GRCh38 |
NC_000012.11:g.115112486A= , CM000674.1:g.115112486A= | GRCh37 |
NC_000012.10:g.113596869A= | NCBI36 |
NG_008315.1:g.14484T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000349155.7:c.1194T= MANE Select | ENSP00000257567.2:p.Ala398= | |
ENST00000257566.7:c.1254T= | ENSP00000257566.3:p.Ala418= | |
ENST00000349155.6:c.1194T= | ENSP00000257567.2:p.Ala398= | |
ENST00000613550.1:c.1194T= | ENSP00000480048.1:p.Ala398= | |
NM_005996.3:c.1194T= | NP_005987.3:p.Ala398= | |
NM_016569.3:c.1254T= | NP_057653.3:p.Ala418= | |
NM_005996.4:c.1194T= MANE Select | NP_005987.3:p.Ala398= | |
NM_016569.4:c.1254T= | NP_057653.3:p.Ala418= |