Linked Data
ClinVar Variation Id:
1000321
ClinVar RCV Id:
RCV001296436
dbSNP Id:
rs2094525182
gnomAD v4:
11-4091532-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091532G>A , CM000673.2:g.4091532G>A | GRCh38 |
| NC_000011.9:g.4112762G>A , CM000673.1:g.4112762G>A | GRCh37 |
| NC_000011.8:g.4069338G>A | NCBI36 |
| NG_016277.1:g.240830G>A , LRG_164:g.240830G>A | |
| NG_027992.2:g.1839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*206G>A | ENSP00000432210.2:n.*206G>A | |
| ENST00000698910.1:c.1303G>A | ENSP00000514024.1:p.Glu435Lys | |
| ENST00000698911.1:c.1888G>A | ENSP00000514025.1:p.Glu630Lys | |
| ENST00000698912.1:c.*206G>A | ENSP00000514026.1:n.*206G>A | |
| ENST00000698913.1:c.1570G>A | ENSP00000514027.1:p.Glu524Lys | |
| ENST00000698915.1:c.1876G>A | ENSP00000514029.1:p.Glu626Lys | |
| ENST00000698916.1:c.1813G>A | ENSP00000514030.1:p.Glu605Lys | |
| ENST00000698918.1:c.*1530G>A | ENSP00000514031.1:n.*1530G>A | |
| ENST00000698919.1:c.*725G>A | ENSP00000514032.1:n.*725G>A | |
| ENST00000698920.1:n.1092G>A | ||
| ENST00000526596.2:c.1885G>A MANE Select | ENSP00000433266.2:p.Glu629Lys | |
| ENST00000300737.8:c.1792G>A | ENSP00000300737.4:p.Glu598Lys | |
| ENST00000526156.1:n.590G>A | ||
| ENST00000526596.1:c.1077G>A | ||
| ENST00000527651.5:c.*206G>A | ENSP00000436208.1:n.*206G>A | |
| ENST00000533977.5:c.1273G>A | ENSP00000434767.1:p.Glu425Lys | |
| ENST00000616714.4:c.2110G>A | ENSP00000478059.1:p.Glu704Lys | |
| NM_001277961.1:c.2110G>A | NP_001264890.1:p.Glu704Lys | |
| NM_001277962.1:c.*206G>A | NP_001264891.1:n.*206G>A | |
| NM_003156.3:c.1792G>A , LRG_164t1:c.1792G>A | NP_003147.2:p.Glu598Lys | |
| NM_001277962.2:c.*206G>A | NP_001264891.1:n.*206G>A | |
| NM_001277961.3:c.2110G>A | NP_001264890.1:p.Glu704Lys | |
| NM_001382566.1:c.1888G>A | NP_001369495.1:p.Glu630Lys | |
| NM_001382567.1:c.1885G>A MANE Select | NP_001369496.1:p.Glu629Lys | |
| NM_001382568.1:c.1813G>A | NP_001369497.1:p.Glu605Lys | |
| NM_001382569.1:c.1657G>A | NP_001369498.1:p.Glu553Lys | |
| NM_001382570.1:c.1564G>A | NP_001369499.1:p.Glu522Lys | |
| NM_001382571.1:c.1312G>A | NP_001369500.1:p.Glu438Lys | |
| NM_001382575.1:c.1570G>A | NP_001369504.1:p.Glu524Lys | |
| NM_001382576.1:c.1570G>A | NP_001369505.1:p.Glu524Lys | |
| NM_001382577.1:c.1570G>A | NP_001369506.1:p.Glu524Lys | |
| NM_001382578.1:c.*206G>A | NP_001369507.1:n.*206G>A | |
| NM_001382579.1:c.*206G>A | NP_001369508.1:n.*206G>A | |
| NM_001382580.1:c.*206G>A | NP_001369509.1:n.*206G>A | |
| NM_001382581.1:c.1303G>A | NP_001369510.1:p.Glu435Lys | |
| NM_003156.4:c.1792G>A | NP_003147.2:p.Glu598Lys | |
| NR_168436.1:n.1716G>A | ||
| NR_168437.1:n.2221G>A | ||
| NR_168438.1:n.2043G>A |