Linked Data
ClinVar Variation Id:
504614
dbSNP Id:
rs200096451
ExAC:
12:65762817 A / G
gnomAD v2:
12-65762817-A-G
gnomAD v3:
12-65369037-A-G
gnomAD v4:
12-65369037-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65369037A>G , CM000674.2:g.65369037A>G | GRCh38 |
| NC_000012.11:g.65762817A>G , CM000674.1:g.65762817A>G | GRCh37 |
| NC_000012.10:g.64049084A>G | NCBI36 |
| NG_023441.1:g.95395A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308259.10:c.292+11A>G MANE Select | ENSP00000312274.6:n.292+11A>G | |
| ENST00000355192.8:c.313+11A>G | ENSP00000347324.3:n.313+11A>G | |
| ENST00000642404.1:c.292+11A>G | ENSP00000496008.1:n.292+11A>G | |
| ENST00000642411.1:c.292+11A>G | ENSP00000494265.1:n.292+11A>G | |
| ENST00000646299.1:c.292+11A>G | ENSP00000494941.1:n.292+11A>G | |
| ENST00000647481.1:c.97+11A>G | ENSP00000496162.1:n.97+11A>G | |
| ENST00000308259.9:c.292+11A>G | ENSP00000312274.5:n.292+11A>G | |
| ENST00000355192.7:c.313+11A>G | ENSP00000347324.3:n.313+11A>G | |
| ENST00000446731.2:c.167+11A>G | ||
| ENST00000535143.1:n.131+11A>G | ||
| ENST00000535239.5:c.292+11A>G | ENSP00000445843.1:n.292+11A>G | |
| ENST00000535664.5:c.292+11A>G | ENSP00000441650.1:n.292+11A>G | |
| ENST00000538045.5:c.292+11A>G | ENSP00000442620.1:n.292+11A>G | |
| ENST00000540804.5:c.313+11A>G | ENSP00000437623.1:n.313+11A>G | |
| ENST00000541189.5:c.338+11A>G | ||
| ENST00000541897.5:c.*118+11A>G | ENSP00000445051.1:n.*118+11A>G | |
| ENST00000614640.4:c.292+11A>G | ENSP00000481483.1:n.292+11A>G | |
| NM_001031679.2:c.292+11A>G | NP_001026849.1:n.292+11A>G | |
| NM_001193460.1:c.292+11A>G | NP_001180389.1:n.292+11A>G | |
| NM_001193461.1:c.292+11A>G | NP_001180390.1:n.292+11A>G | |
| NM_198080.3:c.313+11A>G | NP_932346.1:n.313+11A>G | |
| XM_024448918.1:c.292+11A>G | XP_024304686.1:n.292+11A>G | |
| XM_024448919.1:c.292+11A>G | XP_024304687.1:n.292+11A>G | |
| XM_024448920.1:c.292+11A>G | XP_024304688.1:n.292+11A>G | |
| XM_024448921.1:c.292+11A>G | XP_024304689.1:n.292+11A>G | |
| NM_001031679.3:c.292+11A>G MANE Select | NP_001026849.1:n.292+11A>G | |
| NM_001193460.2:c.292+11A>G | NP_001180389.1:n.292+11A>G | |
| NM_198080.4:c.313+11A>G | NP_932346.1:n.313+11A>G | |
| NM_001193461.2:c.292+11A>G | NP_001180390.1:n.292+11A>G |