HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571218A>T , CM000663.2:g.154571218A>T | GRCh38 |
NC_000001.10:g.154543694A>T , CM000663.1:g.154543694A>T | GRCh37 |
NC_000001.9:g.152810318A>T | NCBI36 |
NG_008027.1:g.8438A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.395A>T MANE Select | ENSP00000357461.3:p.Tyr132Phe | |
ENST00000636034.1:c.395A>T | ENSP00000489703.1:p.Tyr132Phe | |
ENST00000637900.1:c.401A>T | ENSP00000490474.1:p.Tyr134Phe | |
ENST00000368476.3:c.395A>T | ENSP00000357461.3:p.Tyr132Phe | |
NM_000748.2:c.395A>T | NP_000739.1:p.Tyr132Phe | |
XM_017000180.2:c.-9-107A>T | XP_016855669.1:n.-9-107A>T | |
XR_001736952.2:n.647A>T | ||
NM_000748.3:c.395A>T MANE Select | NP_000739.1:p.Tyr132Phe |