HGVS | Genome Assembly |
---|---|
NC_000015.10:g.32774309C>T , CM000677.2:g.32774309C>T | GRCh38 |
NC_000015.9:g.33066510C>T , CM000677.1:g.33066510C>T | GRCh37 |
NC_000015.8:g.30853802C>T | NCBI36 |
NG_042863.1:g.425425G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000616417.5:c.*1G>A MANE Select | ENSP00000479134.1:n.*1G>A | |
ENST00000334528.13:c.3592G>A | ENSP00000333950.9:n.3592G>A | |
ENST00000561249.5:c.*1G>A | ENSP00000453443.1:n.*1G>A | |
ENST00000616417.4:c.*1G>A | ENSP00000479134.1:n.*1G>A | |
NM_001103184.3:c.*1G>A | NP_001096654.1:n.*1G>A | |
NM_001277313.1:c.*1G>A | NP_001264242.1:n.*1G>A | |
XM_011521504.1:c.*1G>A | XP_011519806.1:n.*1G>A | |
XM_011521506.1:c.*1G>A | XP_011519808.1:n.*1G>A | |
XM_011521509.1:c.*1G>A | XP_011519811.1:n.*1G>A | |
XM_011521510.1:c.*1G>A | XP_011519812.1:n.*1G>A | |
XM_011521511.1:c.*1G>A | XP_011519813.1:n.*1G>A | |
XM_011521512.1:c.*1G>A | XP_011519814.1:n.*1G>A | |
XM_011521504.3:c.*1G>A | XP_011519806.1:n.*1G>A | |
XM_011521506.3:c.*1G>A | XP_011519808.1:n.*1G>A | |
XM_011521509.3:c.*1G>A | XP_011519811.1:n.*1G>A | |
XM_011521511.3:c.*1G>A | XP_011519813.1:n.*1G>A | |
XM_017022130.2:c.*1G>A | XP_016877619.1:n.*1G>A | |
XM_017022132.2:c.*1G>A | XP_016877621.1:n.*1G>A | |
XM_017022133.2:c.*1G>A | XP_016877622.1:n.*1G>A | |
XM_017022134.2:c.*1G>A | XP_016877623.1:n.*1G>A | |
XM_017022135.2:c.*1G>A | XP_016877624.1:n.*1G>A | |
NM_001103184.4:c.*1G>A | NP_001096654.1:n.*1G>A | |
NM_001277313.2:c.*1G>A MANE Select | NP_001264242.1:n.*1G>A |