HGVS | Genome Assembly |
---|---|
NC_000005.10:g.154477407C>A , CM000667.2:g.154477407C>A | GRCh38 |
NC_000005.9:g.153856967C>A , CM000667.1:g.153856967C>A | GRCh37 |
NC_000005.8:g.153837160C>A | NCBI36 |
NG_052889.1:g.5858G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000231121.3:c.543+59G>T MANE Select | ENSP00000231121.2:n.543+59G>T | |
ENST00000231121.2:c.543+59G>T | ENSP00000231121.2:n.543+59G>T | |
NM_004821.2:c.543+59G>T | NP_004812.1:n.543+59G>T | |
XM_005268531.1:c.543+59G>T | XP_005268588.1:n.543+59G>T | |
NM_004821.3:c.543+59G>T MANE Select | NP_004812.1:n.543+59G>T |