gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28557160C>G , CM000670.2:g.28557160C>G | GRCh38 |
| NC_000008.10:g.28414677C>G , CM000670.1:g.28414677C>G | GRCh37 |
| NC_000008.9:g.28470596C>G | NCBI36 |
| NG_029723.1:g.67956C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240093.8:c.1787+1189C>G MANE Select | ENSP00000240093.3:n.1787+1189C>G | |
| ENST00000240093.7:c.1787+1189C>G | ENSP00000240093.3:n.1787+1189C>G | |
| ENST00000537916.2:c.1787+1189C>G | ENSP00000437489.1:n.1787+1189C>G | |
| NM_017412.3:c.1787+1189C>G | NP_059108.1:n.1787+1189C>G | |
| NM_145866.1:c.1787+1189C>G | NP_665873.1:n.1787+1189C>G | |
| XM_011544646.1:c.1670+1189C>G | XP_011542948.1:n.1670+1189C>G | |
| XM_011544647.1:c.1586+1189C>G | XP_011542949.1:n.1586+1189C>G | |
| XM_011544649.1:c.1586+1189C>G | XP_011542951.1:n.1586+1189C>G | |
| XR_949476.1:n.2358+1189C>G | ||
| XM_017013841.1:c.1586+1189C>G | XP_016869330.1:n.1586+1189C>G | |
| XR_001745597.2:n.2369+1189C>G | ||
| XR_949476.2:n.2358+1189C>G | ||
| NM_017412.4:c.1787+1189C>G MANE Select | NP_059108.1:n.1787+1189C>G | |
| NM_145866.2:c.1787+1189C>G | NP_665873.1:n.1787+1189C>G |