HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322871G>T , CM000677.2:g.73322871G>T | GRCh38 |
NC_000015.9:g.73615212G>T , CM000677.1:g.73615212G>T | GRCh37 |
NC_000015.8:g.71402265G>T | NCBI36 |
NG_009063.1:g.51394C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3222C>A MANE Select | ENSP00000261917.3:p.Leu1074= | |
ENST00000261917.3:c.3222C>A | ENSP00000261917.3:p.Leu1074= | |
NM_005477.2:c.3222C>A | NP_005468.1:p.Leu1074= | |
XM_011521148.1:c.2004C>A | XP_011519450.1:p.Leu668= | |
XM_011521148.2:c.2004C>A | XP_011519450.1:p.Leu668= | |
NM_005477.3:c.3222C>A MANE Select | NP_005468.1:p.Leu1074= |