Linked Data
dbSNP Id:
rs908375254
gnomAD v2:
6-20641270-A-G
gnomAD v3:
6-20641039-A-G
gnomAD v4:
6-20641039-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20641039A>G , CM000668.2:g.20641039A>G | GRCh38 |
| NC_000006.11:g.20641270A>G , CM000668.1:g.20641270A>G | GRCh37 |
| NC_000006.10:g.20749249A>G | NCBI36 |
| NG_021195.1:g.111583A>G | |
| NG_021195.2:g.111583A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274695.8:c.287-8254A>G MANE Select | ENSP00000274695.4:n.287-8254A>G | |
| ENST00000378610.1:c.287-8254A>G | ENSP00000367873.1:n.287-8254A>G | |
| NM_017774.3:c.287-8254A>G MANE Select | NP_060244.2:n.287-8254A>G | |
| XM_006715128.2:c.287-8254A>G | XP_006715191.1:n.287-8254A>G | |
| XM_011514718.1:c.287-8254A>G | XP_011513020.1:n.287-8254A>G | |
| XM_011514719.1:c.287-8254A>G | XP_011513021.1:n.287-8254A>G | |
| XR_926265.1:n.454-8254A>G | ||
| XR_926266.1:n.567-8254A>G | ||
| XR_926267.1:n.454-8254A>G | ||
| XM_011514719.2:c.287-8254A>G | XP_011513021.1:n.287-8254A>G | |
| XM_017010986.1:c.287-8254A>G | XP_016866475.1:n.287-8254A>G | |
| XM_017010987.1:c.-468-8254A>G | XP_016866476.1:n.-468-8254A>G | |
| XM_024446481.1:c.287-8254A>G | XP_024302249.1:n.287-8254A>G | |
| XR_001743495.2:n.459-8254A>G | ||
| XR_001743496.2:n.854-8254A>G | ||
| XR_001743500.1:n.454-8254A>G | ||
| XR_001743501.1:n.454-8254A>G | ||
| XR_926265.2:n.454-8254A>G | ||
| XR_926266.2:n.567-8254A>G | ||
| XR_926267.2:n.454-8254A>G |