Linked Data
ClinVar Variation Id:
217891
ClinVar RCV Id:
RCV000235547
dbSNP Id:
rs777027944
ExAC:
3:136046008 G / A
gnomAD v2:
3-136046008-G-A
gnomAD v4:
3-136327166-G-A
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136327166G>A , CM000665.2:g.136327166G>A | GRCh38 |
| NC_000003.11:g.136046008G>A , CM000665.1:g.136046008G>A | GRCh37 |
| NC_000003.10:g.137528698G>A | NCBI36 |
| NG_008939.1:g.81842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1210G>A MANE Select | ENSP00000251654.4:p.Glu404Lys | |
| ENST00000251654.8:c.1210G>A | ENSP00000251654.4:p.Glu404Lys | |
| ENST00000462637.5:c.1141G>A | ENSP00000420391.1:p.Glu381Lys | |
| ENST00000466072.5:c.1270G>A | ENSP00000420158.1:p.Glu424Lys | |
| ENST00000468777.5:c.1303G>A | ENSP00000419129.1:p.Glu435Lys | |
| ENST00000469217.5:c.1270G>A | ENSP00000419027.1:p.Glu424Lys | |
| ENST00000471595.5:c.1210G>A | ENSP00000417549.1:p.Glu404Lys | |
| ENST00000473073.1:n.1411G>A | ||
| ENST00000474833.5:n.823+256G>A | ||
| ENST00000478469.5:c.885-7114G>A | ENSP00000420759.1:n.885-7114G>A | |
| ENST00000482086.5:c.862G>A | ENSP00000417253.1:p.Glu288Lys | |
| ENST00000483687.5:c.1153G>A | ENSP00000420639.1:p.Glu385Lys | |
| ENST00000484181.5:c.1198+256G>A | ENSP00000417937.1:n.1198+256G>A | |
| ENST00000490504.5:c.1039G>A | ENSP00000418307.1:p.Glu347Lys | |
| NM_000532.4:c.1210G>A | NP_000523.2:p.Glu404Lys | |
| NM_001178014.1:c.1270G>A | NP_001171485.1:p.Glu424Lys | |
| NM_000532.5:c.1210G>A MANE Select | NP_000523.2:p.Glu404Lys | |
| NM_001178014.2:c.1270G>A | NP_001171485.1:p.Glu424Lys |