HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024027G>A , CM000663.2:g.17024027G>A | GRCh38 |
NC_000001.10:g.17350522G>A , CM000663.1:g.17350522G>A | GRCh37 |
NC_000001.9:g.17223109G>A | NCBI36 |
NG_012340.1:g.35144C>T , LRG_316:g.35144C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.417C>T | ENSP00000481376.2:p.Cys139= | |
ENST00000491274.6:c.546C>T | ENSP00000480482.2:p.Cys182= | |
ENST00000375499.8:c.588C>T MANE Select | ENSP00000364649.3:p.Cys196= | |
ENST00000375499.7:c.588C>T | ENSP00000364649.3:p.Cys196= | |
ENST00000485515.5:n.522C>T | ||
ENST00000491274.5:c.546C>T | ENSP00000480482.1:p.Cys182= | |
NM_003000.2:c.588C>T , LRG_316t1:c.588C>T | NP_002991.2:p.Cys196= | |
NM_003000.3:c.588C>T MANE Select | NP_002991.2:p.Cys196= |