gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22381782 (NFE)
Genomes Max Group AF
0.22381782 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25820211C>A , CM000668.2:g.25820211C>A | GRCh38 |
| NC_000006.11:g.25820439C>A , CM000668.1:g.25820439C>A | GRCh37 |
| NC_000006.10:g.25928418C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244527.10:c.208-296G>T MANE Select | ENSP00000244527.4:n.208-296G>T | |
| ENST00000244527.8:c.208-296G>T | ENSP00000244527.4:n.208-296G>T | |
| ENST00000377886.6:c.208-296G>T | ENSP00000367118.2:n.208-296G>T | |
| ENST00000468082.1:c.208-296G>T | ENSP00000420546.1:n.208-296G>T | |
| ENST00000476801.5:c.208-296G>T | ENSP00000420614.1:n.208-296G>T | |
| NM_005074.3:c.208-296G>T | NP_005065.2:n.208-296G>T | |
| XM_011514818.1:c.208-296G>T | XP_011513120.1:n.208-296G>T | |
| XM_011514819.1:c.208-296G>T | XP_011513121.1:n.208-296G>T | |
| XM_011514820.1:c.208-296G>T | XP_011513122.1:n.208-296G>T | |
| XM_011514821.1:c.-6-296G>T | XP_011513123.1:n.-6-296G>T | |
| XM_011514818.2:c.358-296G>T | XP_011513120.2:n.358-296G>T | |
| XM_011514819.2:c.358-296G>T | XP_011513121.2:n.358-296G>T | |
| XM_011514820.2:c.358-296G>T | XP_011513122.2:n.358-296G>T | |
| XM_011514821.2:c.-6-296G>T | XP_011513123.1:n.-6-296G>T | |
| XM_017011199.1:c.358-296G>T | XP_016866688.1:n.358-296G>T | |
| XM_017011200.1:c.358-296G>T | XP_016866689.1:n.358-296G>T | |
| XM_017011201.2:c.358-296G>T | XP_016866690.1:n.358-296G>T | |
| XM_017011202.1:c.274-296G>T | XP_016866691.1:n.274-296G>T | |
| NM_005074.5:c.208-296G>T MANE Select | NP_005065.2:n.208-296G>T |