HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114674678A>G , CM000674.2:g.114674678A>G | GRCh38 |
NC_000012.11:g.115112483A>G , CM000674.1:g.115112483A>G | GRCh37 |
NC_000012.10:g.113596866A>G | NCBI36 |
NG_008315.1:g.14487T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000349155.7:c.1197T>C MANE Select | ENSP00000257567.2:p.Ala399= | |
ENST00000257566.7:c.1257T>C | ENSP00000257566.3:p.Ala419= | |
ENST00000349155.6:c.1197T>C | ENSP00000257567.2:p.Ala399= | |
ENST00000613550.1:c.1197T>C | ENSP00000480048.1:p.Ala399= | |
NM_005996.3:c.1197T>C | NP_005987.3:p.Ala399= | |
NM_016569.3:c.1257T>C | NP_057653.3:p.Ala419= | |
NM_005996.4:c.1197T>C MANE Select | NP_005987.3:p.Ala399= | |
NM_016569.4:c.1257T>C | NP_057653.3:p.Ala419= |