HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571576A= , CM000663.2:g.154571576A= | GRCh38 |
NC_000001.10:g.154544052A= , CM000663.1:g.154544052A= | GRCh37 |
NC_000001.9:g.152810676A= | NCBI36 |
NG_008027.1:g.8796A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.753A= MANE Select | ENSP00000357461.3:p.Leu251= | |
ENST00000636034.1:c.753A= | ENSP00000489703.1:p.Leu251= | |
ENST00000637900.1:c.759A= | ENSP00000490474.1:p.Leu253= | |
ENST00000368476.3:c.753A= | ENSP00000357461.3:p.Leu251= | |
NM_000748.2:c.753A= | NP_000739.1:p.Leu251= | |
XM_017000180.2:c.243A= | XP_016855669.1:p.Leu81= | |
XR_001736952.2:n.1005A= | ||
NM_000748.3:c.753A= MANE Select | NP_000739.1:p.Leu251= |