gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5321072 (AFR)
Genomes Max Group AF
0.5321072 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51200506A>G , CM000680.2:g.51200506A>G | GRCh38 |
| NC_000018.9:g.48726876A>G , CM000680.1:g.48726876A>G | GRCh37 |
| NC_000018.8:g.46980874A>G | NCBI36 |
| NG_015801.1:g.2176T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591040.2:c.-108+17756T>C | ENSP00000502049.1:n.-108+17756T>C | |
| ENST00000591040.1:n.43+17756T>C |