gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1800459 (AMR)
Genomes Max Group AF
0.1800459 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247457731G>A , CM000663.2:g.247457731G>A | GRCh38 |
| NC_000001.10:g.247621033G>A , CM000663.1:g.247621033G>A | GRCh37 |
| NC_000001.9:g.245687656G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641149.2:c.-3175C>T MANE Select | ENSP00000492892.1:n.-3175C>T | |
| ENST00000641149.1:c.-3175C>T | ENSP00000492892.1:n.-3175C>T | |
| ENST00000641527.1:c.-1306C>T | ENSP00000493421.1:n.-1306C>T | |
| ENST00000641613.1:n.278C>T | ||
| NM_001004492.2:c.-3175C>T MANE Select | NP_001004492.1:n.-3175C>T | |
| NR_169840.1:n.278C>T |