HGVS | Genome Assembly |
---|---|
NC_000001.11:g.212883278G>T , CM000663.2:g.212883278G>T | GRCh38 |
NC_000001.10:g.213056620G>T , CM000663.1:g.213056620G>T | GRCh37 |
NC_000001.9:g.211123243G>T | NCBI36 |
NG_028131.1:g.30024G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366971.9:c.1025-93G>T MANE Select | ENSP00000355938.4:n.1025-93G>T | |
ENST00000366971.8:c.1025-93G>T | ENSP00000355938.4:n.1025-93G>T | |
ENST00000419102.1:c.421-93G>T | ||
ENST00000474693.1:n.250-93G>T | ||
NM_014053.3:c.1025-93G>T | NP_054772.1:n.1025-93G>T | |
XM_011509446.1:c.1025-93G>T | XP_011507748.1:n.1025-93G>T | |
XR_247024.1:n.1199-93G>T | ||
XR_426771.1:n.1326-93G>T | ||
XM_011509446.3:c.1025-93G>T | XP_011507748.1:n.1025-93G>T | |
XR_247024.3:n.1199-93G>T | ||
NM_014053.4:c.1025-93G>T MANE Select | NP_054772.1:n.1025-93G>T |