Linked Data
dbSNP Id:
rs1446324302
gnomAD v2:
6-39307072-T-C
gnomAD v3:
6-39339296-T-C
gnomAD v4:
6-39339296-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39339296T>C , CM000668.2:g.39339296T>C | GRCh38 |
| NC_000006.11:g.39307072T>C , CM000668.1:g.39307072T>C | GRCh37 |
| NC_000006.10:g.39415050T>C | NCBI36 |
| NG_054928.1:g.391129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287152.12:c.2429-2748A>G MANE Select | ENSP00000287152.7:n.2429-2748A>G | |
| ENST00000229913.9:c.782-2748A>G | ENSP00000229913.5:n.782-2748A>G | |
| ENST00000287152.11:c.2429-2748A>G | ENSP00000287152.7:n.2429-2748A>G | |
| ENST00000394362.5:c.731-2748A>G | ENSP00000377889.1:n.731-2748A>G | |
| ENST00000458470.5:c.2053-2748A>G | ||
| NM_001289020.1:c.2378-2748A>G | NP_001275949.1:n.2378-2748A>G | |
| NM_001289021.1:c.2261-2748A>G | NP_001275950.1:n.2261-2748A>G | |
| NM_001289024.1:c.782-2748A>G | NP_001275953.1:n.782-2748A>G | |
| NM_145027.4:c.2429-2748A>G | NP_659464.3:n.2429-2748A>G | |
| XM_011514359.1:c.2378-2748A>G | XP_011512661.1:n.2378-2748A>G | |
| XR_926774.1:n.238+618T>C | ||
| NM_001289020.2:c.2378-2748A>G | NP_001275949.1:n.2378-2748A>G | |
| NM_001289021.2:c.2261-2748A>G | NP_001275950.1:n.2261-2748A>G | |
| NM_001289024.2:c.782-2748A>G | NP_001275953.1:n.782-2748A>G | |
| NM_145027.5:c.2429-2748A>G | NP_659464.3:n.2429-2748A>G | |
| XM_011514359.3:c.2378-2748A>G | XP_011512661.1:n.2378-2748A>G | |
| XR_926774.2:n.248+618T>C | ||
| NM_145027.6:c.2429-2748A>G MANE Select | NP_659464.3:n.2429-2748A>G | |
| NM_001289020.3:c.2378-2748A>G | NP_001275949.1:n.2378-2748A>G | |
| NM_001289021.3:c.2261-2748A>G | NP_001275950.1:n.2261-2748A>G | |
| NM_001289024.3:c.782-2748A>G | NP_001275953.1:n.782-2748A>G |