gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1256527 (NFE)
Genomes Max Group AF
0.1256527 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26500335G>T , CM000668.2:g.26500335G>T | GRCh38 |
| NC_000006.11:g.26500563G>T , CM000668.1:g.26500563G>T | GRCh37 |
| NC_000006.10:g.26608542G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684113.1:c.-81G>T MANE Select | ENSP00000507193.1:n.-81G>T | |
| XM_005249340.2:c.220G>T | XP_005249397.2:p.Ala74Ser | |
| XM_005249340.3:c.220G>T | XP_005249397.2:p.Ala74Ser | |
| XR_001744057.2:n.2717-12191C>A | ||
| NM_001732.3:c.-81G>T MANE Select | NP_001723.2:n.-81G>T |