gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15668986 (MID)
Genomes Max Group AF
0.14454171 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38802156T>C , CM000665.2:g.38802156T>C | GRCh38 |
| NC_000003.11:g.38843647T>C , CM000665.1:g.38843647T>C | GRCh37 |
| NC_000003.10:g.38818651T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.-32-8114A>G MANE Select | ENSP00000390600.2:n.-32-8114A>G | |
| ENST00000655275.1:c.-12-8134A>G | ENSP00000499510.1:n.-12-8134A>G | |
| NM_006514.4:c.-32-8114A>G MANE Select | NP_006505.4:n.-32-8114A>G |