HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022646A>T , CM000663.2:g.17022646A>T | GRCh38 |
NC_000001.10:g.17349141A>T , CM000663.1:g.17349141A>T | GRCh37 |
NC_000001.9:g.17221728A>T | NCBI36 |
NG_012340.1:g.36525T>A , LRG_316:g.36525T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.556T>A | ENSP00000481376.2:p.Cys186Ser | |
ENST00000491274.6:c.685T>A | ENSP00000480482.2:p.Cys229Ser | |
ENST00000375499.8:c.727T>A MANE Select | ENSP00000364649.3:p.Cys243Ser | |
ENST00000375499.7:c.727T>A | ENSP00000364649.3:p.Cys243Ser | |
ENST00000475049.5:n.152T>A | ||
ENST00000485092.5:n.391T>A | ||
ENST00000485515.5:n.661T>A | ||
NM_003000.2:c.727T>A , LRG_316t1:c.727T>A | NP_002991.2:p.Cys243Ser | |
NM_003000.3:c.727T>A MANE Select | NP_002991.2:p.Cys243Ser |