HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15440535T>G , CM000663.2:g.15440535T>G | GRCh38 |
NC_000001.10:g.15767031T>G , CM000663.1:g.15767031T>G | GRCh37 |
NC_000001.9:g.15639618T>G | NCBI36 |
NG_009253.1:g.7094T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375949.5:c.175T>G MANE Select | ENSP00000365116.4:p.Cys59Gly | |
ENST00000375943.6:c.41-1912T>G | ENSP00000365110.2:n.41-1912T>G | |
ENST00000375949.4:c.175T>G | ENSP00000365116.4:p.Cys59Gly | |
ENST00000476813.5:n.53-1912T>G | ||
ENST00000483406.1:n.85T>G | ||
NM_007272.2:c.175T>G | NP_009203.2:p.Cys59Gly | |
XM_011540550.1:c.175T>G | XP_011538852.1:p.Cys59Gly | |
NM_007272.3:c.175T>G MANE Select | NP_009203.2:p.Cys59Gly |