Linked Data
dbSNP Id:
rs776743841
ExAC:
6:25813233 T / C
gnomAD v2:
6-25813233-T-C
gnomAD v4:
6-25813005-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25813005T>C , CM000668.2:g.25813005T>C | GRCh38 |
| NC_000006.11:g.25813233T>C , CM000668.1:g.25813233T>C | GRCh37 |
| NC_000006.10:g.25921212T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244527.10:c.736-13A>G MANE Select | ENSP00000244527.4:n.736-13A>G | |
| ENST00000244527.8:c.736-13A>G | ENSP00000244527.4:n.736-13A>G | |
| ENST00000377886.6:c.617-13A>G | ENSP00000367118.2:n.617-13A>G | |
| ENST00000468082.1:c.735+90A>G | ENSP00000420546.1:n.735+90A>G | |
| ENST00000476801.5:c.736-13A>G | ENSP00000420614.1:n.736-13A>G | |
| NM_005074.3:c.736-13A>G | NP_005065.2:n.736-13A>G | |
| XM_011514818.1:c.736-13A>G | XP_011513120.1:n.736-13A>G | |
| XM_011514819.1:c.649-13A>G | XP_011513121.1:n.649-13A>G | |
| XM_011514820.1:c.735+90A>G | XP_011513122.1:n.735+90A>G | |
| XM_011514821.1:c.523-13A>G | XP_011513123.1:n.523-13A>G | |
| XM_011514818.2:c.886-13A>G | XP_011513120.2:n.886-13A>G | |
| XM_011514819.2:c.799-13A>G | XP_011513121.2:n.799-13A>G | |
| XM_011514820.2:c.885+90A>G | XP_011513122.2:n.885+90A>G | |
| XM_011514821.2:c.523-13A>G | XP_011513123.1:n.523-13A>G | |
| XM_017011199.1:c.886-13A>G | XP_016866688.1:n.886-13A>G | |
| XM_017011200.1:c.886-13A>G | XP_016866689.1:n.886-13A>G | |
| XM_017011201.2:c.886-13A>G | XP_016866690.1:n.886-13A>G | |
| XM_017011202.1:c.802-13A>G | XP_016866691.1:n.802-13A>G | |
| NM_005074.5:c.736-13A>G MANE Select | NP_005065.2:n.736-13A>G |