HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571217T>G , CM000663.2:g.154571217T>G | GRCh38 |
NC_000001.10:g.154543693T>G , CM000663.1:g.154543693T>G | GRCh37 |
NC_000001.9:g.152810317T>G | NCBI36 |
NG_008027.1:g.8437T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.394T>G MANE Select | ENSP00000357461.3:p.Tyr132Asp | |
ENST00000636034.1:c.394T>G | ENSP00000489703.1:p.Tyr132Asp | |
ENST00000637900.1:c.400T>G | ENSP00000490474.1:p.Tyr134Asp | |
ENST00000368476.3:c.394T>G | ENSP00000357461.3:p.Tyr132Asp | |
NM_000748.2:c.394T>G | NP_000739.1:p.Tyr132Asp | |
XM_017000180.2:c.-9-108T>G | XP_016855669.1:n.-9-108T>G | |
XR_001736952.2:n.646T>G | ||
NM_000748.3:c.394T>G MANE Select | NP_000739.1:p.Tyr132Asp |