Linked Data
dbSNP Id:
rs1231799532
gnomAD v2:
11-4104809-A-G
gnomAD v3:
11-4083579-A-G
gnomAD v4:
11-4083579-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4083579A>G , CM000673.2:g.4083579A>G | GRCh38 |
| NC_000011.9:g.4104809A>G , CM000673.1:g.4104809A>G | GRCh37 |
| NC_000011.8:g.4061385A>G | NCBI36 |
| NG_016277.1:g.232877A>G , LRG_164:g.232877A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.1252+81A>G | ENSP00000432210.2:n.1252+81A>G | |
| ENST00000533343.2:n.2154A>G | ||
| ENST00000698909.1:n.2331+81A>G | ||
| ENST00000698910.1:c.985+81A>G | ENSP00000514024.1:n.985+81A>G | |
| ENST00000698911.1:c.1252+81A>G | ENSP00000514025.1:n.1252+81A>G | |
| ENST00000698912.1:c.1252+81A>G | ENSP00000514026.1:n.1252+81A>G | |
| ENST00000698913.1:c.1252+81A>G | ENSP00000514027.1:n.1252+81A>G | |
| ENST00000698915.1:c.1474+81A>G | ENSP00000514029.1:n.1474+81A>G | |
| ENST00000698916.1:c.1495+81A>G | ENSP00000514030.1:n.1495+81A>G | |
| ENST00000698918.1:c.*1175+81A>G | ENSP00000514031.1:n.*1175+81A>G | |
| ENST00000698919.1:c.*407+81A>G | ENSP00000514032.1:n.*407+81A>G | |
| ENST00000698920.1:n.774+81A>G | ||
| ENST00000526596.2:c.1474+81A>G MANE Select | ENSP00000433266.2:n.1474+81A>G | |
| ENST00000300737.8:c.1474+81A>G | ENSP00000300737.4:n.1474+81A>G | |
| ENST00000526596.1:c.666+81A>G | ||
| ENST00000527651.5:c.1474+81A>G | ENSP00000436208.1:n.1474+81A>G | |
| ENST00000531332.1:n.342+81A>G | ||
| ENST00000533343.1:n.565A>G | ||
| ENST00000533977.5:c.955+81A>G | ENSP00000434767.1:n.955+81A>G | |
| ENST00000616714.4:c.1474+81A>G | ENSP00000478059.1:n.1474+81A>G | |
| NM_001277961.1:c.1474+81A>G | NP_001264890.1:n.1474+81A>G | |
| NM_001277962.1:c.1474+81A>G | NP_001264891.1:n.1474+81A>G | |
| NM_003156.3:c.1474+81A>G , LRG_164t1:c.1474+81A>G | NP_003147.2:n.1474+81A>G | |
| NM_001277962.2:c.1474+81A>G | NP_001264891.1:n.1474+81A>G | |
| NM_001277961.3:c.1474+81A>G | NP_001264890.1:n.1474+81A>G | |
| NM_001382566.1:c.1252+81A>G | NP_001369495.1:n.1252+81A>G | |
| NM_001382567.1:c.1474+81A>G MANE Select | NP_001369496.1:n.1474+81A>G | |
| NM_001382568.1:c.1495+81A>G | NP_001369497.1:n.1495+81A>G | |
| NM_001382569.1:c.1339+81A>G | NP_001369498.1:n.1339+81A>G | |
| NM_001382570.1:c.1246+81A>G | NP_001369499.1:n.1246+81A>G | |
| NM_001382571.1:c.994+81A>G | NP_001369500.1:n.994+81A>G | |
| NM_001382573.1:c.*73A>G | NP_001369502.1:n.*73A>G | |
| NM_001382575.1:c.1252+81A>G | NP_001369504.1:n.1252+81A>G | |
| NM_001382576.1:c.1252+81A>G | NP_001369505.1:n.1252+81A>G | |
| NM_001382577.1:c.1252+81A>G | NP_001369506.1:n.1252+81A>G | |
| NM_001382578.1:c.1252+81A>G | NP_001369507.1:n.1252+81A>G | |
| NM_001382579.1:c.1252+81A>G | NP_001369508.1:n.1252+81A>G | |
| NM_001382580.1:c.985+81A>G | NP_001369509.1:n.985+81A>G | |
| NM_001382581.1:c.985+81A>G | NP_001369510.1:n.985+81A>G | |
| NM_003156.4:c.1474+81A>G | NP_003147.2:n.1474+81A>G | |
| NR_168436.1:n.1399-2898A>G | ||
| NR_168437.1:n.1903+81A>G | ||
| NR_168438.1:n.1725+81A>G |