Linked Data
ClinVar Variation Id:
2728037
ClinVar RCV Id:
RCV003581255
dbSNP Id:
rs182336010
ExAC:
3:25502677 A / G
gnomAD v2:
3-25502677-A-G
gnomAD v3:
3-25461186-A-G
gnomAD v4:
3-25461186-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25461186A>G , CM000665.2:g.25461186A>G | GRCh38 |
| NC_000003.11:g.25502677A>G , CM000665.1:g.25502677A>G | GRCh37 |
| NC_000003.10:g.25477681A>G | NCBI36 |
| NG_029013.1:g.37924A>G | |
| NG_029013.3:g.636864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383772.9:c.179-7A>G | ENSP00000373282.5:n.179-7A>G | |
| ENST00000437042.7:c.-179-7A>G | ENSP00000398840.2:n.-179-7A>G | |
| ENST00000455576.2:c.179-7A>G | ENSP00000508527.1:n.179-7A>G | |
| ENST00000458646.2:c.-179-7A>G | ENSP00000391391.1:n.-179-7A>G | |
| ENST00000462272.6:n.38-7A>G | ||
| ENST00000479097.6:c.158-7A>G | ENSP00000508755.1:n.158-7A>G | |
| ENST00000480001.6:c.158-7A>G | ENSP00000510647.1:n.158-7A>G | |
| ENST00000685523.1:c.162-7A>G | ENSP00000508765.1:n.162-7A>G | |
| ENST00000686715.1:c.179-7A>G | ENSP00000510539.1:n.179-7A>G | |
| ENST00000687083.1:c.158-7A>G | ENSP00000509681.1:n.158-7A>G | |
| ENST00000687353.1:c.179-7A>G | ENSP00000508588.1:n.179-7A>G | |
| ENST00000687676.1:c.179-7A>G | ENSP00000510313.1:n.179-7A>G | |
| ENST00000688892.1:c.179-7A>G | ENSP00000510650.1:n.179-7A>G | |
| ENST00000690398.1:c.179-7A>G | ENSP00000510044.1:n.179-7A>G | |
| ENST00000691912.1:c.158-7A>G | ENSP00000510520.1:n.158-7A>G | |
| ENST00000692640.1:c.158-7A>G | ENSP00000508498.1:n.158-7A>G | |
| ENST00000693261.1:c.-179-7A>G | ENSP00000508421.1:n.-179-7A>G | |
| ENST00000330688.9:c.158-7A>G MANE Select | ENSP00000332296.4:n.158-7A>G | |
| ENST00000330688.8:c.158-7A>G | ENSP00000332296.4:n.158-7A>G | |
| ENST00000383772.8:c.179-7A>G | ENSP00000373282.4:n.179-7A>G | |
| ENST00000437042.6:c.-179-7A>G | ENSP00000398840.2:n.-179-7A>G | |
| ENST00000458646.1:c.-179-7A>G | ENSP00000391391.1:n.-179-7A>G | |
| ENST00000462272.5:n.174-7A>G | ||
| ENST00000479097.5:n.174-7A>G | ||
| ENST00000480001.5:n.174-7A>G | ||
| ENST00000489694.5:n.189-7A>G | ||
| NM_000965.4:c.158-7A>G | NP_000956.2:n.158-7A>G | |
| NM_001290216.1:c.179-7A>G | NP_001277145.1:n.179-7A>G | |
| NM_001290217.1:c.-179-7A>G | NP_001277146.1:n.-179-7A>G | |
| NM_001290266.1:c.11-7A>G | NP_001277195.1:n.11-7A>G | |
| NM_001290276.1:c.-179-7A>G | NP_001277205.1:n.-179-7A>G | |
| NM_001290277.1:c.158-7A>G | NP_001277206.1:n.158-7A>G | |
| NM_001290300.1:c.29-7A>G | NP_001277229.1:n.29-7A>G | |
| NM_016152.3:c.-179-7A>G | NP_057236.1:n.-179-7A>G | |
| NR_110892.1:n.627-7A>G | ||
| NR_110893.1:n.627-7A>G | ||
| NM_001290216.2:c.179-7A>G | NP_001277145.1:n.179-7A>G | |
| NM_000965.5:c.158-7A>G MANE Select | NP_000956.2:n.158-7A>G | |
| NM_001290216.3:c.179-7A>G | NP_001277145.1:n.179-7A>G | |
| NM_001290217.2:c.-179-7A>G | NP_001277146.1:n.-179-7A>G | |
| NM_001290266.2:c.11-7A>G | NP_001277195.1:n.11-7A>G | |
| NM_001290276.2:c.-179-7A>G | NP_001277205.1:n.-179-7A>G | |
| NM_001290300.2:c.29-7A>G | NP_001277229.1:n.29-7A>G | |
| NM_016152.4:c.-179-7A>G | NP_057236.1:n.-179-7A>G | |
| NR_110892.2:n.627-7A>G | ||
| NR_110893.2:n.627-7A>G |