HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80275026C>G , CM000672.2:g.80275026C>G | GRCh38 |
NC_000010.10:g.82034782C>G , CM000672.1:g.82034782C>G | GRCh37 |
NC_000010.9:g.82024762C>G | NCBI36 |
NG_008083.1:g.19653G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.942G>C MANE Select | ENSP00000361287.3:p.Val314= | |
ENST00000372213.7:c.942G>C | ENSP00000361287.3:p.Val314= | |
ENST00000480845.1:n.174G>C | ||
ENST00000485270.5:n.454G>C | ||
NM_000429.2:c.942G>C | NP_000420.1:p.Val314= | |
XM_005269842.3:c.942G>C | XP_005269899.1:p.Val314= | |
XM_005269843.3:c.819G>C | XP_005269900.1:p.Val273= | |
NM_000429.3:c.942G>C MANE Select | NP_000420.1:p.Val314= |