Linked Data
ClinVar Variation Id:
1717527
ClinVar RCV Id:
RCV002297644
dbSNP Id:
rs1408566143
gnomAD v2:
11-4104525-G-A
gnomAD v4:
11-4083295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4083295G>A , CM000673.2:g.4083295G>A | GRCh38 |
| NC_000011.9:g.4104525G>A , CM000673.1:g.4104525G>A | GRCh37 |
| NC_000011.8:g.4061101G>A | NCBI36 |
| NG_016277.1:g.232593G>A , LRG_164:g.232593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.1049G>A | ENSP00000432210.2:p.Arg350Gln | |
| ENST00000533343.2:n.1870G>A | ||
| ENST00000698909.1:n.2128G>A | ||
| ENST00000698910.1:c.782G>A | ENSP00000514024.1:p.Arg261Gln | |
| ENST00000698911.1:c.1049G>A | ENSP00000514025.1:p.Arg350Gln | |
| ENST00000698912.1:c.1049G>A | ENSP00000514026.1:p.Arg350Gln | |
| ENST00000698913.1:c.1049G>A | ENSP00000514027.1:p.Arg350Gln | |
| ENST00000698915.1:c.1271G>A | ENSP00000514029.1:p.Arg424Gln | |
| ENST00000698916.1:c.1292G>A | ENSP00000514030.1:p.Arg431Gln | |
| ENST00000698918.1:c.*972G>A | ENSP00000514031.1:n.*972G>A | |
| ENST00000698919.1:c.*204G>A | ENSP00000514032.1:n.*204G>A | |
| ENST00000698920.1:n.571G>A | ||
| ENST00000526596.2:c.1271G>A MANE Select | ENSP00000433266.2:p.Arg424Gln | |
| ENST00000300737.8:c.1271G>A | ENSP00000300737.4:p.Arg424Gln | |
| ENST00000526596.1:c.463G>A | ||
| ENST00000527651.5:c.1271G>A | ENSP00000436208.1:p.Arg424Gln | |
| ENST00000531332.1:n.139G>A | ||
| ENST00000533343.1:n.281G>A | ||
| ENST00000533977.5:c.752G>A | ENSP00000434767.1:p.Arg251Gln | |
| ENST00000616714.4:c.1271G>A | ENSP00000478059.1:p.Arg424Gln | |
| NM_001277961.1:c.1271G>A | NP_001264890.1:p.Arg424Gln | |
| NM_001277962.1:c.1271G>A | NP_001264891.1:p.Arg424Gln | |
| NM_003156.3:c.1271G>A , LRG_164t1:c.1271G>A | NP_003147.2:p.Arg424Gln | |
| NM_001277962.2:c.1271G>A | NP_001264891.1:p.Arg424Gln | |
| NM_001277961.3:c.1271G>A | NP_001264890.1:p.Arg424Gln | |
| NM_001382566.1:c.1049G>A | NP_001369495.1:p.Arg350Gln | |
| NM_001382567.1:c.1271G>A MANE Select | NP_001369496.1:p.Arg424Gln | |
| NM_001382568.1:c.1292G>A | NP_001369497.1:p.Arg431Gln | |
| NM_001382569.1:c.1136G>A | NP_001369498.1:p.Arg379Gln | |
| NM_001382570.1:c.1043G>A | NP_001369499.1:p.Arg348Gln | |
| NM_001382571.1:c.791G>A | NP_001369500.1:p.Arg264Gln | |
| NM_001382573.1:c.1049G>A | NP_001369502.1:p.Arg350Gln | |
| NM_001382575.1:c.1049G>A | NP_001369504.1:p.Arg350Gln | |
| NM_001382576.1:c.1049G>A | NP_001369505.1:p.Arg350Gln | |
| NM_001382577.1:c.1049G>A | NP_001369506.1:p.Arg350Gln | |
| NM_001382578.1:c.1049G>A | NP_001369507.1:p.Arg350Gln | |
| NM_001382579.1:c.1049G>A | NP_001369508.1:p.Arg350Gln | |
| NM_001382580.1:c.782G>A | NP_001369509.1:p.Arg261Gln | |
| NM_001382581.1:c.782G>A | NP_001369510.1:p.Arg261Gln | |
| NM_003156.4:c.1271G>A | NP_003147.2:p.Arg424Gln | |
| NR_168436.1:n.1399-3182G>A | ||
| NR_168437.1:n.1700G>A | ||
| NR_168438.1:n.1522G>A |