Linked Data
dbSNP Id:
rs1435703
gnomAD v2:
3-25560231-G-T
gnomAD v3:
3-25518740-G-T
gnomAD v4:
3-25518740-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25518740G>T , CM000665.2:g.25518740G>T | GRCh38 |
| NC_000003.11:g.25560231G>T , CM000665.1:g.25560231G>T | GRCh37 |
| NC_000003.10:g.25535235G>T | NCBI36 |
| NG_029013.1:g.95478G>T | |
| NG_029013.3:g.694418G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383772.9:c.469+17417G>T | ENSP00000373282.5:n.469+17417G>T | |
| ENST00000437042.7:c.112+17417G>T | ENSP00000398840.2:n.112+17417G>T | |
| ENST00000458646.2:c.112+17417G>T | ENSP00000391391.1:n.112+17417G>T | |
| ENST00000462272.6:n.329-15940G>T | ||
| ENST00000479097.6:c.448+17417G>T | ENSP00000508755.1:n.448+17417G>T | |
| ENST00000480001.6:c.448+17417G>T | ENSP00000510647.1:n.448+17417G>T | |
| ENST00000685523.1:c.*284+17417G>T | ENSP00000508765.1:n.*284+17417G>T | |
| ENST00000686715.1:c.469+17417G>T | ENSP00000510539.1:n.469+17417G>T | |
| ENST00000687083.1:c.448+17417G>T | ENSP00000509681.1:n.448+17417G>T | |
| ENST00000687353.1:c.469+17417G>T | ENSP00000508588.1:n.469+17417G>T | |
| ENST00000687676.1:c.469+17417G>T | ENSP00000510313.1:n.469+17417G>T | |
| ENST00000688892.1:c.469+17417G>T | ENSP00000510650.1:n.469+17417G>T | |
| ENST00000689700.1:c.142+17417G>T | ENSP00000510200.1:n.142+17417G>T | |
| ENST00000690398.1:c.470-15940G>T | ENSP00000510044.1:n.470-15940G>T | |
| ENST00000691580.1:c.291+17417G>T | ||
| ENST00000691912.1:c.448+17417G>T | ENSP00000510520.1:n.448+17417G>T | |
| ENST00000693261.1:c.112+17417G>T | ENSP00000508421.1:n.112+17417G>T | |
| ENST00000693580.1:c.142+17417G>T | ENSP00000510405.1:n.142+17417G>T | |
| ENST00000330688.9:c.448+17417G>T MANE Select | ENSP00000332296.4:n.448+17417G>T | |
| ENST00000330688.8:c.448+17417G>T | ENSP00000332296.4:n.448+17417G>T | |
| ENST00000383772.8:c.469+17417G>T | ENSP00000373282.4:n.469+17417G>T | |
| ENST00000437042.6:c.112+17417G>T | ENSP00000398840.2:n.112+17417G>T | |
| ENST00000458646.1:c.112+17417G>T | ENSP00000391391.1:n.112+17417G>T | |
| ENST00000462272.5:n.464+17417G>T | ||
| ENST00000479097.5:n.464+17417G>T | ||
| ENST00000480001.5:n.464+17417G>T | ||
| NM_000965.4:c.448+17417G>T | NP_000956.2:n.448+17417G>T | |
| NM_001290216.1:c.469+17417G>T | NP_001277145.1:n.469+17417G>T | |
| NM_001290217.1:c.112+17417G>T | NP_001277146.1:n.112+17417G>T | |
| NM_001290266.1:c.301+17417G>T | NP_001277195.1:n.301+17417G>T | |
| NM_001290276.1:c.112+17417G>T | NP_001277205.1:n.112+17417G>T | |
| NM_001290277.1:c.448+17417G>T | NP_001277206.1:n.448+17417G>T | |
| NM_001290300.1:c.319+17417G>T | NP_001277229.1:n.319+17417G>T | |
| NM_016152.3:c.112+17417G>T | NP_057236.1:n.112+17417G>T | |
| NR_110892.1:n.917+17417G>T | ||
| NR_110893.1:n.917+17417G>T | ||
| NM_001290216.2:c.469+17417G>T | NP_001277145.1:n.469+17417G>T | |
| NM_000965.5:c.448+17417G>T MANE Select | NP_000956.2:n.448+17417G>T | |
| NM_001290216.3:c.469+17417G>T | NP_001277145.1:n.469+17417G>T | |
| NM_001290217.2:c.112+17417G>T | NP_001277146.1:n.112+17417G>T | |
| NM_001290266.2:c.301+17417G>T | NP_001277195.1:n.301+17417G>T | |
| NM_001290276.2:c.112+17417G>T | NP_001277205.1:n.112+17417G>T | |
| NM_001290300.2:c.319+17417G>T | NP_001277229.1:n.319+17417G>T | |
| NM_016152.4:c.112+17417G>T | NP_057236.1:n.112+17417G>T | |
| NR_110892.2:n.917+17417G>T | ||
| NR_110893.2:n.917+17417G>T |