Linked Data
ClinVar Variation Id:
1149293
ClinVar RCV Id:
RCV001489471
dbSNP Id:
rs1212025973
gnomAD v2:
3-135980874-G-A
gnomAD v3:
3-136262032-G-A
gnomAD v4:
3-136262032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262032G>A , CM000665.2:g.136262032G>A | GRCh38 |
| NC_000003.11:g.135980874G>A , CM000665.1:g.135980874G>A | GRCh37 |
| NC_000003.10:g.137463564G>A | NCBI36 |
| NG_008939.1:g.16708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.510G>A MANE Select | ENSP00000251654.4:p.Val170= | |
| ENST00000251654.8:c.510G>A | ENSP00000251654.4:p.Val170= | |
| ENST00000459873.1:c.261G>A | ENSP00000419293.1:p.Val87= | |
| ENST00000462542.5:c.377G>A | ||
| ENST00000462637.5:c.441G>A | ENSP00000420391.1:p.Val147= | |
| ENST00000465176.5:n.472G>A | ||
| ENST00000466072.5:c.510G>A | ENSP00000420158.1:p.Val170= | |
| ENST00000468777.5:c.603G>A | ENSP00000419129.1:p.Val201= | |
| ENST00000469217.5:c.570G>A | ENSP00000419027.1:p.Val190= | |
| ENST00000471595.5:c.510G>A | ENSP00000417549.1:p.Val170= | |
| ENST00000473073.1:n.467G>A | ||
| ENST00000474833.5:n.168+11474G>A | ||
| ENST00000475214.5:n.424G>A | ||
| ENST00000478469.5:c.510G>A | ENSP00000420759.1:p.Val170= | |
| ENST00000482086.5:c.162G>A | ENSP00000417253.1:p.Val54= | |
| ENST00000483687.5:c.453G>A | ENSP00000420639.1:p.Val151= | |
| ENST00000484181.5:c.510G>A | ENSP00000417937.1:p.Val170= | |
| ENST00000490504.5:c.372+5409G>A | ENSP00000418307.1:n.372+5409G>A | |
| NM_000532.4:c.510G>A | NP_000523.2:p.Val170= | |
| NM_001178014.1:c.570G>A | NP_001171485.1:p.Val190= | |
| XM_011512873.1:c.510G>A | XP_011511175.1:p.Val170= | |
| XM_011512873.2:c.510G>A | XP_011511175.1:p.Val170= | |
| NM_000532.5:c.510G>A MANE Select | NP_000523.2:p.Val170= | |
| NM_001178014.2:c.570G>A | NP_001171485.1:p.Val190= |