Linked Data
ClinVar Variation Id:
343478
dbSNP Id:
rs781556055
ExAC:
3:136047653 A / G
gnomAD v2:
3-136047653-A-G
gnomAD v4:
3-136328811-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136328811A>G , CM000665.2:g.136328811A>G | GRCh38 |
| NC_000003.11:g.136047653A>G , CM000665.1:g.136047653A>G | GRCh37 |
| NC_000003.10:g.137530343A>G | NCBI36 |
| NG_008939.1:g.83487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1452A>G MANE Select | ENSP00000251654.4:p.Ala484= | |
| ENST00000251654.8:c.1452A>G | ENSP00000251654.4:p.Ala484= | |
| ENST00000462637.5:c.1383A>G | ENSP00000420391.1:p.Ala461= | |
| ENST00000466072.5:c.1512A>G | ENSP00000420158.1:p.Ala504= | |
| ENST00000468777.5:c.1545A>G | ENSP00000419129.1:p.Ala515= | |
| ENST00000469217.5:c.1512A>G | ENSP00000419027.1:p.Ala504= | |
| ENST00000471595.5:c.1452A>G | ENSP00000417549.1:p.Ala484= | |
| ENST00000473073.1:n.1653A>G | ||
| ENST00000478469.5:c.885-5469A>G | ENSP00000420759.1:n.885-5469A>G | |
| ENST00000482086.5:c.1104A>G | ENSP00000417253.1:p.Ala368= | |
| ENST00000483687.5:c.1395A>G | ENSP00000420639.1:p.Ala465= | |
| ENST00000484181.5:c.*133A>G | ENSP00000417937.1:n.*133A>G | |
| ENST00000490504.5:c.1281A>G | ENSP00000418307.1:p.Ala427= | |
| NM_000532.4:c.1452A>G | NP_000523.2:p.Ala484= | |
| NM_001178014.1:c.1512A>G | NP_001171485.1:p.Ala504= | |
| NM_000532.5:c.1452A>G MANE Select | NP_000523.2:p.Ala484= | |
| NM_001178014.2:c.1512A>G | NP_001171485.1:p.Ala504= |