Linked Data
ClinVar Variation Id:
142912
dbSNP Id:
rs562015640
ExAC:
10:89720714 A / G
gnomAD v2:
10-89720714-A-G
gnomAD v3:
10-87960957-A-G
gnomAD v4:
10-87960957-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960957A>G , CM000672.2:g.87960957A>G | GRCh38 |
| NC_000010.10:g.89720714A>G , CM000672.1:g.89720714A>G | GRCh37 |
| NC_000010.9:g.89710694A>G | NCBI36 |
| NG_007466.2:g.102519A>G , LRG_311:g.102519A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.958A>G | ENSP00000514759.2:p.Lys320Glu | |
| ENST00000710265.1:c.865A>G | ENSP00000518161.1:p.Lys289Glu | |
| ENST00000472832.3:c.865A>G | ENSP00000483066.2:p.Lys289Glu | |
| ENST00000688158.2:n.1600A>G | ||
| ENST00000688922.2:c.*695A>G | ENSP00000508742.2:n.*695A>G | |
| ENST00000700021.1:c.820A>G | ENSP00000514757.1:p.Lys274Glu | |
| ENST00000700022.1:c.*204A>G | ENSP00000514758.1:n.*204A>G | |
| ENST00000700023.1:n.2023A>G | ||
| ENST00000700024.1:n.2257A>G | ||
| ENST00000700025.1:n.1634A>G | ||
| ENST00000700026.1:n.502A>G | ||
| ENST00000700029.1:c.792A>G | ||
| ENST00000706954.1:c.865A>G | ENSP00000516674.1:p.Lys289Glu | |
| ENST00000706955.1:c.*900A>G | ENSP00000516675.1:n.*900A>G | |
| ENST00000686459.1:c.*451A>G | ENSP00000508909.1:n.*451A>G | |
| ENST00000688158.1:c.*976A>G | ENSP00000509254.1:n.*976A>G | |
| ENST00000688308.1:c.865A>G | ENSP00000508752.1:p.Lys289Glu | |
| ENST00000688922.1:c.786A>G | ||
| ENST00000693560.1:c.1384A>G | ENSP00000509861.1:p.Lys462Glu | |
| ENST00000371953.8:c.865A>G MANE Select | ENSP00000361021.3:p.Lys289Glu | |
| ENST00000371953.7:c.865A>G | ENSP00000361021.3:p.Lys289Glu | |
| ENST00000472832.2:c.292A>G | ENSP00000483066.1:p.Lys98Glu | |
| NM_000314.5:c.865A>G | NP_000305.3:p.Lys289Glu | |
| NM_000314.6:c.865A>G | NP_000305.3:p.Lys289Glu | |
| NM_001304717.2:c.1384A>G | NP_001291646.2:p.Lys462Glu | |
| NM_001304718.1:c.274A>G | NP_001291647.1:p.Lys92Glu | |
| XM_006717926.2:c.820A>G | XP_006717989.1:p.Lys274Glu | |
| XM_011539981.1:c.865A>G | XP_011538283.1:p.Lys289Glu | |
| XM_011539982.1:c.769A>G | XP_011538284.1:p.Lys257Glu | |
| XR_945791.1:n.1435A>G | ||
| NM_000314.7:c.865A>G | NP_000305.3:p.Lys289Glu | |
| NM_001304717.5:c.1384A>G | NP_001291646.4:p.Lys462Glu | |
| NM_001304718.2:c.274A>G | NP_001291647.1:p.Lys92Glu | |
| NM_000314.8:c.865A>G MANE Select | NP_000305.3:p.Lys289Glu |