gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67135003G>C , CM000663.2:g.67135003G>C | GRCh38 |
| NC_000001.10:g.67600686G>C , CM000663.1:g.67600686G>C | GRCh37 |
| NC_000001.9:g.67373274G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371007.6:c.-103-3776C>G | ENSP00000360046.1:n.-103-3776C>G | |
| ENST00000448166.6:c.-103-3776C>G | ENSP00000415519.2:n.-103-3776C>G | |
| XM_011541464.1:c.-177C>G | XP_011539766.1:n.-177C>G | |
| XM_011541465.1:c.-91C>G | XP_011539767.1:n.-91C>G | |
| XM_011541466.1:c.-18+6611C>G | XP_011539768.1:n.-18+6611C>G | |
| XM_011541471.1:c.-177C>G | XP_011539773.1:n.-177C>G | |
| XM_011541466.2:c.-18+6611C>G | XP_011539768.1:n.-18+6611C>G |