Linked Data
dbSNP Id:
rs10463832
gnomAD v2:
5-127110486-C-A
gnomAD v3:
5-127774794-C-A
gnomAD v4:
5-127774794-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127774794C>A , CM000667.2:g.127774794C>A | GRCh38 |
| NC_000005.9:g.127110486C>A , CM000667.1:g.127110486C>A | GRCh37 |
| NC_000005.8:g.127138385C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706942.1:c.279+20419C>A | ENSP00000516662.1:n.279+20419C>A | |
| ENST00000514853.5:c.222+20419C>A MANE Select | ENSP00000490579.2:n.222+20419C>A | |
| ENST00000514853.4:c.222+20419C>A | ENSP00000490579.2:n.222+20419C>A | |
| XR_159059.3:n.311+20419C>A | ||
| XR_246581.3:n.245+20419C>A | ||
| XR_246582.2:n.177+20419C>A | ||
| XR_948748.1:n.207+20419C>A | ||
| XR_948749.1:n.236+20419C>A | ||
| XR_948750.1:n.404+20419C>A | ||
| XR_948751.1:n.408+20419C>A | ||
| XR_948752.1:n.127+20419C>A | ||
| XR_948753.1:n.314+20419C>A | ||
| XR_948754.1:n.313+20419C>A | ||
| XR_948755.1:n.312+20419C>A | ||
| XR_948756.1:n.312+20419C>A | ||
| XR_948757.1:n.312+20419C>A | ||
| XR_948758.1:n.312+20419C>A | ||
| XR_948759.1:n.312+20419C>A | ||
| XR_948760.1:n.331+20419C>A | ||
| XR_948761.1:n.331+20419C>A | ||
| XR_948762.1:n.312+20419C>A | ||
| XR_948763.1:n.314+20419C>A | ||
| XR_948764.1:n.313+20419C>A | ||
| XR_948765.1:n.312+20419C>A | ||
| XR_948766.1:n.312+20419C>A | ||
| NM_001317938.1:c.279+20419C>A | NP_001304867.1:n.279+20419C>A | |
| XM_017009805.1:c.192+20419C>A | XP_016865294.1:n.192+20419C>A | |
| XM_017009806.2:c.159+20419C>A | XP_016865295.1:n.159+20419C>A | |
| XM_017009807.1:c.159+20419C>A | XP_016865296.1:n.159+20419C>A | |
| XM_017009808.1:c.117+20419C>A | XP_016865297.1:n.117+20419C>A | |
| XM_017009809.2:c.279+20419C>A | XP_016865298.1:n.279+20419C>A | |
| XM_017009810.2:c.279+20419C>A | XP_016865299.1:n.279+20419C>A | |
| XM_017009811.2:c.279+20419C>A | XP_016865300.1:n.279+20419C>A | |
| XM_017009812.2:c.279+20419C>A | XP_016865301.1:n.279+20419C>A | |
| XM_017009813.2:c.279+20419C>A | XP_016865302.1:n.279+20419C>A | |
| XM_024446203.1:c.159+20419C>A | XP_024301971.1:n.159+20419C>A | |
| XR_002956177.1:n.245+20419C>A | ||
| XR_948757.3:n.312+20419C>A | ||
| NM_001317938.2:c.222+20419C>A MANE Select | NP_001304867.2:n.222+20419C>A |