Linked Data
dbSNP Id:
rs10489896
gnomAD v2:
1-234583618-C-T
gnomAD v3:
1-234447872-C-T
gnomAD v4:
1-234447872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.234447872C>T , CM000663.2:g.234447872C>T | GRCh38 |
| NC_000001.10:g.234583618C>T , CM000663.1:g.234583618C>T | GRCh37 |
| NC_000001.9:g.232650241C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000040877.2:c.1961+608G>A MANE Select | ENSP00000040877.1:n.1961+608G>A | |
| ENST00000040877.1:c.1961+608G>A | ENSP00000040877.1:n.1961+608G>A | |
| NM_005646.3:c.1961+608G>A | NP_005637.3:n.1961+608G>A | |
| XM_005273234.2:c.1958+608G>A | XP_005273291.1:n.1958+608G>A | |
| XM_006711812.2:c.593+608G>A | XP_006711875.1:n.593+608G>A | |
| XM_011544263.1:c.1961+608G>A | XP_011542565.1:n.1961+608G>A | |
| XM_011544264.1:c.1961+608G>A | XP_011542566.1:n.1961+608G>A | |
| XM_011544265.1:c.1961+608G>A | XP_011542567.1:n.1961+608G>A | |
| XR_949155.1:n.2013+608G>A | ||
| XR_949156.1:n.2014+608G>A | ||
| XR_949157.1:n.2014+608G>A | ||
| XR_949158.1:n.2016+608G>A | ||
| XM_005273234.3:c.1958+608G>A | XP_005273291.1:n.1958+608G>A | |
| XM_011544263.2:c.1961+608G>A | XP_011542565.1:n.1961+608G>A | |
| XM_017002194.2:c.1961+608G>A | XP_016857683.1:n.1961+608G>A | |
| XM_017002195.1:c.593+608G>A | XP_016857684.1:n.593+608G>A | |
| XM_017002197.1:c.-171+608G>A | XP_016857686.1:n.-171+608G>A | |
| XR_001737374.1:n.2030+608G>A | ||
| XR_001737375.1:n.2031+608G>A | ||
| XR_001737376.2:n.2032+608G>A | ||
| XR_001737377.1:n.2032+608G>A | ||
| XR_001737378.2:n.2032+608G>A | ||
| XR_001737379.2:n.2032+608G>A | ||
| XR_001737380.2:n.2032+608G>A | ||
| XR_001737381.2:n.2028+608G>A | ||
| XR_001737382.2:n.2032+608G>A | ||
| XR_001737383.1:n.891+608G>A | ||
| XR_002957455.1:n.2030+608G>A | ||
| XR_002957456.1:n.2032+608G>A | ||
| XR_949155.2:n.2030+608G>A | ||
| XR_949157.2:n.2030+608G>A | ||
| XR_949158.3:n.2032+608G>A | ||
| NM_005646.4:c.1961+608G>A MANE Select | NP_005637.3:n.1961+608G>A |