Linked Data
ClinVar Variation Id:
1409429
dbSNP Id:
rs373189621
ExAC:
3:135980839 A / G
gnomAD v2:
3-135980839-A-G
gnomAD v3:
3-136261997-A-G
gnomAD v4:
3-136261997-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136261997A>G , CM000665.2:g.136261997A>G | GRCh38 |
| NC_000003.11:g.135980839A>G , CM000665.1:g.135980839A>G | GRCh37 |
| NC_000003.10:g.137463529A>G | NCBI36 |
| NG_008939.1:g.16673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.475A>G MANE Select | ENSP00000251654.4:p.Asn159Asp | |
| ENST00000251654.8:c.475A>G | ENSP00000251654.4:p.Asn159Asp | |
| ENST00000459873.1:c.226A>G | ENSP00000419293.1:p.Asn76Asp | |
| ENST00000462542.5:c.342A>G | ||
| ENST00000462637.5:c.406A>G | ENSP00000420391.1:p.Asn136Asp | |
| ENST00000465176.5:n.437A>G | ||
| ENST00000465423.5:c.562A>G | ENSP00000419263.1:p.Asn188Asp | |
| ENST00000466072.5:c.475A>G | ENSP00000420158.1:p.Asn159Asp | |
| ENST00000468777.5:c.568A>G | ENSP00000419129.1:p.Asn190Asp | |
| ENST00000469217.5:c.535A>G | ENSP00000419027.1:p.Asn179Asp | |
| ENST00000471595.5:c.475A>G | ENSP00000417549.1:p.Asn159Asp | |
| ENST00000473073.1:n.432A>G | ||
| ENST00000474833.5:n.168+11439A>G | ||
| ENST00000475214.5:n.389A>G | ||
| ENST00000478469.5:c.475A>G | ENSP00000420759.1:p.Asn159Asp | |
| ENST00000482086.5:c.127A>G | ENSP00000417253.1:p.Asn43Asp | |
| ENST00000483687.5:c.418A>G | ENSP00000420639.1:p.Asn140Asp | |
| ENST00000484181.5:c.475A>G | ENSP00000417937.1:p.Asn159Asp | |
| ENST00000490504.5:c.372+5374A>G | ENSP00000418307.1:n.372+5374A>G | |
| ENST00000494742.5:c.226A>G | ENSP00000418020.1:p.Asn76Asp | |
| NM_000532.4:c.475A>G | NP_000523.2:p.Asn159Asp | |
| NM_001178014.1:c.535A>G | NP_001171485.1:p.Asn179Asp | |
| XM_011512873.1:c.475A>G | XP_011511175.1:p.Asn159Asp | |
| XM_011512873.2:c.475A>G | XP_011511175.1:p.Asn159Asp | |
| NM_000532.5:c.475A>G MANE Select | NP_000523.2:p.Asn159Asp | |
| NM_001178014.2:c.535A>G | NP_001171485.1:p.Asn179Asp |