HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47286396G>T , CM000679.2:g.47286396G>T | GRCh38 |
NC_000017.10:g.45363762G>T , CM000679.1:g.45363762G>T | GRCh37 |
NC_000017.9:g.42718761G>T | NCBI36 |
NG_008332.2:g.37555G>T , LRG_481:g.37555G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.751G>T | ENSP00000513002.1:p.Ala251Ser | |
ENST00000559488.7:c.751G>T MANE Select | ENSP00000452786.2:p.Ala251Ser | |
ENST00000559488.5:c.751G>T | ENSP00000452786.1:p.Ala251Ser | |
ENST00000560629.1:c.716G>T | ||
ENST00000571680.1:c.751G>T | ENSP00000461626.1:p.Ala251Ser | |
NM_000212.2:c.751G>T , LRG_481t1:c.751G>T | NP_000203.2:p.Ala251Ser | |
NM_000212.3:c.751G>T MANE Select | NP_000203.2:p.Ala251Ser |