HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64751405A>C , CM000673.2:g.64751405A>C | GRCh38 |
NC_000011.9:g.64518877A>C , CM000673.1:g.64518877A>C | GRCh37 |
NC_000011.8:g.64275453A>C | NCBI36 |
NG_013018.1:g.14311T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000164139.4:c.1889T>G MANE Select | ENSP00000164139.3:p.Val630Gly | |
ENST00000164139.3:c.1889T>G | ENSP00000164139.3:p.Val630Gly | |
ENST00000377432.7:c.1625T>G | ENSP00000366650.3:p.Val542Gly | |
ENST00000462303.1:n.213T>G | ||
NM_001164716.1:c.1625T>G | NP_001158188.1:p.Val542Gly | |
NM_005609.2:c.1889T>G | NP_005600.1:p.Val630Gly | |
NM_005609.3:c.1889T>G | NP_005600.1:p.Val630Gly | |
NM_005609.4:c.1889T>G MANE Select | NP_005600.1:p.Val630Gly |