gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01504116 (AFR)
Genomes Max Group AF
0.01504116 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19512621A>C , CM000663.2:g.19512621A>C | GRCh38 |
| NC_000001.10:g.19839115A>C , CM000663.1:g.19839115A>C | GRCh37 |
| NC_000001.9:g.19711702A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648702.1:c.-54+27966A>C | ENSP00000497006.1:n.-54+27966A>C | |
| XR_947017.1:n.373-43T>G | ||
| XR_947019.1:n.144-331A>C | ||
| XR_947020.1:n.144-5500A>C | ||
| XR_001737920.1:n.144-5500A>C | ||
| XR_947017.2:n.1179-43T>G | ||
| XR_947020.2:n.144-5500A>C |