Linked Data
ClinVar Variation Id:
2799928
ClinVar RCV Id:
RCV003624813
dbSNP Id:
rs1488982685
gnomAD v2:
3-135980886-T-G
gnomAD v3:
3-136262044-T-G
gnomAD v4:
3-136262044-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262044T>G , CM000665.2:g.136262044T>G | GRCh38 |
| NC_000003.11:g.135980886T>G , CM000665.1:g.135980886T>G | GRCh37 |
| NC_000003.10:g.137463576T>G | NCBI36 |
| NG_008939.1:g.16720T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.522T>G MANE Select | ENSP00000251654.4:p.Ala174= | |
| ENST00000251654.8:c.522T>G | ENSP00000251654.4:p.Ala174= | |
| ENST00000459873.1:c.273T>G | ENSP00000419293.1:p.Ala91= | |
| ENST00000462542.5:c.389T>G | ||
| ENST00000462637.5:c.453T>G | ENSP00000420391.1:p.Ala151= | |
| ENST00000465176.5:n.484T>G | ||
| ENST00000466072.5:c.522T>G | ENSP00000420158.1:p.Ala174= | |
| ENST00000468777.5:c.615T>G | ENSP00000419129.1:p.Ala205= | |
| ENST00000469217.5:c.582T>G | ENSP00000419027.1:p.Ala194= | |
| ENST00000471595.5:c.522T>G | ENSP00000417549.1:p.Ala174= | |
| ENST00000473073.1:n.479T>G | ||
| ENST00000474833.5:n.168+11486T>G | ||
| ENST00000475214.5:n.436T>G | ||
| ENST00000478469.5:c.522T>G | ENSP00000420759.1:p.Ala174= | |
| ENST00000482086.5:c.174T>G | ENSP00000417253.1:p.Ala58= | |
| ENST00000483687.5:c.465T>G | ENSP00000420639.1:p.Ala155= | |
| ENST00000484181.5:c.522T>G | ENSP00000417937.1:p.Ala174= | |
| ENST00000490504.5:c.372+5421T>G | ENSP00000418307.1:n.372+5421T>G | |
| NM_000532.4:c.522T>G | NP_000523.2:p.Ala174= | |
| NM_001178014.1:c.582T>G | NP_001171485.1:p.Ala194= | |
| XM_011512873.1:c.522T>G | XP_011511175.1:p.Ala174= | |
| XM_011512873.2:c.522T>G | XP_011511175.1:p.Ala174= | |
| NM_000532.5:c.522T>G MANE Select | NP_000523.2:p.Ala174= | |
| NM_001178014.2:c.582T>G | NP_001171485.1:p.Ala194= |