HGVS | Genome Assembly |
---|---|
NC_000012.12:g.107001313T>A , CM000674.2:g.107001313T>A | GRCh38 |
NC_000012.11:g.107395091T>A , CM000674.1:g.107395091T>A | GRCh37 |
NC_000012.10:g.105919221T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000008527.10:c.651A>T MANE Select | ENSP00000008527.5:p.Ala217= | |
ENST00000008527.9:c.651A>T | ENSP00000008527.5:p.Ala217= | |
ENST00000546722.1:n.144A>T | ||
ENST00000552790.5:n.1210A>T | ||
NM_004075.4:c.651A>T | NP_004066.1:p.Ala217= | |
XM_011537939.1:c.567A>T | XP_011536241.1:p.Ala189= | |
XM_017018832.2:c.567A>T | XP_016874321.1:p.Ala189= | |
XM_024448844.1:c.651A>T | XP_024304612.1:p.Ala217= | |
XM_024448845.1:c.567A>T | XP_024304613.1:p.Ala189= | |
NM_004075.5:c.651A>T MANE Select | NP_004066.1:p.Ala217= |