gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.17979580T>G , CM000671.2:g.17979580T>G | GRCh38 |
| NC_000009.11:g.17979578T>G , CM000671.1:g.17979578T>G | GRCh37 |
| NC_000009.10:g.17969578T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680146.1:c.87+72658T>G | ENSP00000505591.1:n.87+72658T>G | |
| XM_011518063.1:c.141+46555T>G | XP_011516365.1:n.141+46555T>G | |
| XM_011518064.1:c.96+72658T>G | XP_011516366.1:n.96+72658T>G | |
| XM_011518065.1:c.63+46555T>G | XP_011516367.1:n.63+46555T>G | |
| XM_011518063.2:c.141+46555T>G | XP_011516365.1:n.141+46555T>G | |
| XM_011518064.3:c.96+72658T>G | XP_011516366.1:n.96+72658T>G | |
| XM_017015311.1:c.141+46555T>G | XP_016870800.1:n.141+46555T>G | |
| XM_017015312.2:c.96+72658T>G | XP_016870801.1:n.96+72658T>G | |
| XM_017015314.1:c.141+46555T>G | XP_016870803.1:n.141+46555T>G |