HGVS | Genome Assembly |
---|---|
NC_000012.12:g.7396400C>T , CM000674.2:g.7396400C>T | GRCh38 |
NC_000012.11:g.7548996C>T , CM000674.1:g.7548996C>T | GRCh37 |
NC_000012.10:g.7440263C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313599.8:c.1745G>A MANE Select | ENSP00000315945.3:p.Gly582Asp | |
ENST00000313599.7:c.1745G>A | ENSP00000315945.3:p.Gly582Asp | |
ENST00000416109.2:c.1775G>A | ENSP00000393474.2:p.Gly592Asp | |
ENST00000545926.1:c.362G>A | ENSP00000439921.1:p.Gly121Asp | |
NM_001297650.1:c.1775G>A | NP_001284579.1:p.Gly592Asp | |
NM_174941.5:c.1745G>A | NP_777601.2:p.Gly582Asp | |
XM_011520616.1:c.1745G>A | XP_011518918.1:p.Gly582Asp | |
XM_011520617.1:c.1670G>A | XP_011518919.1:p.Gly557Asp | |
XM_011520618.1:c.1028G>A | XP_011518920.1:p.Gly343Asp | |
XM_011520619.1:c.932G>A | XP_011518921.1:p.Gly311Asp | |
XM_011520620.1:c.932G>A | XP_011518922.1:p.Gly311Asp | |
XR_931282.1:n.1771G>A | ||
XM_011520617.2:c.1670G>A | XP_011518919.1:p.Gly557Asp | |
XM_011520618.3:c.1028G>A | XP_011518920.1:p.Gly343Asp | |
XR_002957313.1:n.1771G>A | ||
XR_931282.2:n.1771G>A | ||
NM_001297650.2:c.1775G>A | NP_001284579.2:p.Gly592Asp | |
NM_174941.6:c.1745G>A MANE Select | NP_777601.3:p.Gly582Asp |