Linked Data
ClinVar Variation Id:
12015
ClinVar RCV Id:
RCV000012795
dbSNP Id:
rs121964960
ExAC:
3:135980866 G / A
gnomAD v2:
3-135980866-G-A
gnomAD v3:
3-136262024-G-A
gnomAD v4:
3-136262024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262024G>A , CM000665.2:g.136262024G>A | GRCh38 |
| NC_000003.11:g.135980866G>A , CM000665.1:g.135980866G>A | GRCh37 |
| NC_000003.10:g.137463556G>A | NCBI36 |
| NG_008939.1:g.16700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.502G>A MANE Select | ENSP00000251654.4:p.Glu168Lys | |
| ENST00000251654.8:c.502G>A | ENSP00000251654.4:p.Glu168Lys | |
| ENST00000459873.1:c.253G>A | ENSP00000419293.1:p.Glu85Lys | |
| ENST00000462542.5:c.369G>A | ||
| ENST00000462637.5:c.433G>A | ENSP00000420391.1:p.Glu145Lys | |
| ENST00000465176.5:n.464G>A | ||
| ENST00000466072.5:c.502G>A | ENSP00000420158.1:p.Glu168Lys | |
| ENST00000468777.5:c.595G>A | ENSP00000419129.1:p.Glu199Lys | |
| ENST00000469217.5:c.562G>A | ENSP00000419027.1:p.Glu188Lys | |
| ENST00000471595.5:c.502G>A | ENSP00000417549.1:p.Glu168Lys | |
| ENST00000473073.1:n.459G>A | ||
| ENST00000474833.5:n.168+11466G>A | ||
| ENST00000475214.5:n.416G>A | ||
| ENST00000478469.5:c.502G>A | ENSP00000420759.1:p.Glu168Lys | |
| ENST00000482086.5:c.154G>A | ENSP00000417253.1:p.Glu52Lys | |
| ENST00000483687.5:c.445G>A | ENSP00000420639.1:p.Glu149Lys | |
| ENST00000484181.5:c.502G>A | ENSP00000417937.1:p.Glu168Lys | |
| ENST00000490504.5:c.372+5401G>A | ENSP00000418307.1:n.372+5401G>A | |
| ENST00000494742.5:c.253G>A | ||
| NM_000532.4:c.502G>A | NP_000523.2:p.Glu168Lys | |
| NM_001178014.1:c.562G>A | NP_001171485.1:p.Glu188Lys | |
| XM_011512873.1:c.502G>A | XP_011511175.1:p.Glu168Lys | |
| XM_011512873.2:c.502G>A | XP_011511175.1:p.Glu168Lys | |
| NM_000532.5:c.502G>A MANE Select | NP_000523.2:p.Glu168Lys | |
| NM_001178014.2:c.562G>A | NP_001171485.1:p.Glu188Lys |