gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46826895 (EAS)
Genomes Max Group AF
0.46826895 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191028361A>C , CM000664.2:g.191028361A>C | GRCh38 |
| NC_000002.11:g.191893087A>C , CM000664.1:g.191893087A>C | GRCh37 |
| NC_000002.10:g.191601332A>C | NCBI36 |
| NG_012852.1:g.127839T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923710.1:n.906-2524A>C | ||
| XR_923711.1:n.426-2524A>C | ||
| NR_136318.1:n.31-2524A>C |