Linked Data
ClinVar Variation Id:
1220378
ClinVar RCV Id:
RCV001592636
dbSNP Id:
rs144430494
gnomAD v2:
15-65321672-T-C
gnomAD v3:
15-65029334-T-C
gnomAD v4:
15-65029334-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029334T>C , CM000677.2:g.65029334T>C | GRCh38 |
| NC_000015.9:g.65321672T>C , CM000677.1:g.65321672T>C | GRCh37 |
| NC_000015.8:g.63108725T>C | NCBI36 |
| NG_029184.1:g.5306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.209+71A>G MANE Select | ENSP00000220058.4:n.209+71A>G | |
| ENST00000220058.8:c.209+71A>G | ENSP00000220058.4:n.209+71A>G | |
| ENST00000543678.1:c.209+71A>G | ENSP00000443754.1:n.209+71A>G | |
| ENST00000558460.5:c.209+71A>G | ENSP00000452646.1:n.209+71A>G | |
| ENST00000558614.1:n.170+71A>G | ||
| ENST00000559633.1:n.128+71A>G | ||
| ENST00000560717.5:c.194+71A>G | ENSP00000457257.1:n.194+71A>G | |
| NM_139242.3:c.209+71A>G | NP_640335.2:n.209+71A>G | |
| XM_005254158.3:c.-129A>G | XP_005254215.1:n.-129A>G | |
| XM_005254158.5:c.280A>G | XP_005254215.2:p.Arg94Gly | |
| XR_001751081.1:n.295A>G | ||
| NM_139242.4:c.209+71A>G MANE Select | NP_640335.2:n.209+71A>G |