gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155235170T>C , CM000663.2:g.155235170T>C | GRCh38 |
| NC_000001.10:g.155204961T>C , CM000663.1:g.155204961T>C | GRCh37 |
| NC_000001.9:g.153471585T>C | NCBI36 |
| NG_009783.1:g.14528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1505+25A>G MANE Select | ENSP00000357357.3:n.1505+25A>G | |
| ENST00000327247.9:c.1505+25A>G | ENSP00000314508.5:n.1505+25A>G | |
| ENST00000368373.7:c.1505+25A>G | ENSP00000357357.3:n.1505+25A>G | |
| ENST00000427500.7:c.1358+25A>G | ENSP00000402577.2:n.1358+25A>G | |
| ENST00000428024.3:c.1244+25A>G | ENSP00000397986.2:n.1244+25A>G | |
| ENST00000464536.1:n.191-349A>G | ||
| ENST00000478472.1:n.865+25A>G | ||
| ENST00000484489.5:n.664+25A>G | ||
| NM_000157.3:c.1505+25A>G | NP_000148.2:n.1505+25A>G | |
| NM_001005741.2:c.1505+25A>G | NP_001005741.1:n.1505+25A>G | |
| NM_001005742.2:c.1505+25A>G | NP_001005742.1:n.1505+25A>G | |
| NM_001171811.1:c.1244+25A>G | NP_001165282.1:n.1244+25A>G | |
| NM_001171812.1:c.1358+25A>G | NP_001165283.1:n.1358+25A>G | |
| XM_006711270.1:c.1505+25A>G | XP_006711333.1:n.1505+25A>G | |
| XM_011509407.1:c.1505+25A>G | XP_011507709.1:n.1505+25A>G | |
| NM_000157.4:c.1505+25A>G MANE Select | NP_000148.2:n.1505+25A>G | |
| NM_001005741.3:c.1505+25A>G | NP_001005741.1:n.1505+25A>G | |
| NM_001005742.3:c.1505+25A>G | NP_001005742.1:n.1505+25A>G | |
| NM_001171811.2:c.1244+25A>G | NP_001165282.1:n.1244+25A>G | |
| NM_001171812.2:c.1358+25A>G | NP_001165283.1:n.1358+25A>G |