Linked Data
ClinVar Variation Id:
288728
dbSNP Id:
rs200125400
ExAC:
5:131726558 G / A
gnomAD v2:
5-131726558-G-A
gnomAD v3:
5-132390866-G-A
gnomAD v4:
5-132390866-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390866G>A , CM000667.2:g.132390866G>A | GRCh38 |
| NC_000005.9:g.131726558G>A , CM000667.1:g.131726558G>A | GRCh37 |
| NC_000005.8:g.131754457G>A | NCBI36 |
| NG_008982.1:g.26158G>A | |
| NG_008982.2:g.26163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1070G>A | ENSP00000388838.2:p.Gly357Asp | |
| ENST00000435065.7:c.1301G>A | ENSP00000402760.2:p.Gly434Asp | |
| ENST00000448810.6:c.*81G>A | ENSP00000401860.2:n.*81G>A | |
| ENST00000685543.1:n.1370G>A | ||
| ENST00000686757.1:c.*393G>A | ENSP00000510721.1:n.*393G>A | |
| ENST00000687740.1:n.3914G>A | ||
| ENST00000688151.1:n.2539G>A | ||
| ENST00000689271.1:c.1076G>A | ENSP00000510797.1:p.Gly359Asp | |
| ENST00000690900.1:c.*393G>A | ENSP00000510703.1:n.*393G>A | |
| ENST00000692212.1:n.2841G>A | ||
| ENST00000692355.1:c.482G>A | ||
| ENST00000692413.1:c.1211G>A | ENSP00000509374.1:p.Gly404Asp | |
| ENST00000692825.1:c.1297G>A | ENSP00000509447.1:n.1297G>A | |
| ENST00000693308.1:c.1277G>A | ENSP00000509770.1:p.Gly426Asp | |
| ENST00000693763.1:n.2389G>A | ||
| ENST00000245407.8:c.1229G>A MANE Select | ENSP00000245407.3:p.Gly410Asp | |
| ENST00000245407.7:c.1229G>A | ENSP00000245407.3:p.Gly410Asp | |
| ENST00000435065.6:c.1301G>A | ENSP00000402760.2:p.Gly434Asp | |
| ENST00000447841.5:c.112-1567G>A | ||
| ENST00000448810.5:c.491G>A | ||
| ENST00000461013.5:n.8651G>A | ||
| ENST00000475308.1:n.1907G>A | ||
| ENST00000479605.5:n.332G>A | ||
| NM_001308122.1:c.1301G>A | NP_001295051.1:p.Gly434Asp | |
| NM_003060.3:c.1229G>A | NP_003051.1:p.Gly410Asp | |
| XM_011543590.1:c.611G>A | XP_011541892.1:p.Gly204Asp | |
| XR_427718.1:n.1589G>A | ||
| XR_948290.1:n.1394-1567G>A | ||
| XR_948291.1:n.1583G>A | ||
| XM_011543590.2:c.611G>A | XP_011541892.1:p.Gly204Asp | |
| XM_017009778.2:c.701G>A | XP_016865267.1:p.Gly234Asp | |
| XR_001742215.1:n.1484G>A | ||
| XR_001742216.1:n.1503G>A | ||
| XR_427718.2:n.1589G>A | ||
| XR_948290.2:n.1394-1567G>A | ||
| XR_948291.2:n.1583G>A | ||
| NM_003060.4:c.1229G>A MANE Select | NP_003051.1:p.Gly410Asp | |
| NM_001308122.2:c.1301G>A | NP_001295051.1:p.Gly434Asp |