gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71638742 (NFE)
Genomes Max Group AF
0.71638742 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.71551174T>G , CM000669.2:g.71551174T>G | GRCh38 |
| NC_000007.13:g.71016159T>G , CM000669.1:g.71016159T>G | GRCh37 |
| NC_000007.12:g.70654095T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333538.10:c.963-20111T>G MANE Select | ENSP00000329654.5:n.963-20111T>G | |
| ENST00000333538.9:c.963-20111T>G | ENSP00000329654.5:n.963-20111T>G | |
| ENST00000467723.1:n.897-20111T>G | ||
| ENST00000498380.6:n.1365-20111T>G | ||
| ENST00000618959.1:c.726-20111T>G | ENSP00000479090.1:n.726-20111T>G | |
| NM_022479.2:c.963-20111T>G | NP_071924.1:n.963-20111T>G | |
| XM_011516467.1:c.963-20111T>G | XP_011514769.1:n.963-20111T>G | |
| XM_011516467.3:c.963-20111T>G | XP_011514769.1:n.963-20111T>G | |
| XM_017012521.2:c.963-20111T>G | XP_016868010.1:n.963-20111T>G | |
| NM_022479.3:c.963-20111T>G MANE Select | NP_071924.1:n.963-20111T>G |