HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816774G>A , CM000681.2:g.4816774G>A | GRCh38 |
NC_000019.9:g.4816786G>A , CM000681.1:g.4816786G>A | GRCh37 |
NC_000019.8:g.4767786G>A | NCBI36 |
NG_031998.1:g.19969C>T , LRG_358:g.19969C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1604C>T MANE Select | ENSP00000248244.4:p.Ala535Val | |
ENST00000248244.5:c.1604C>T | ENSP00000248244.4:p.Ala535Val | |
ENST00000621756.1:c.1187C>T | ENSP00000479467.1:p.Ala396Val | |
NM_182919.3:c.1604C>T , LRG_358t1:c.1604C>T | NP_891549.1:p.Ala535Val | |
NM_001385678.1:c.1562C>T | NP_001372607.1:p.Ala521Val | |
NM_001385679.1:c.1469C>T | NP_001372608.1:p.Ala490Val | |
NM_001385680.1:c.962C>T | NP_001372609.1:p.Ala321Val | |
NM_182919.4:c.1604C>T MANE Select | NP_891549.1:p.Ala535Val |