gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52515779 (AFR)
Genomes Max Group AF
0.52515779 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62773567T>A , CM000680.2:g.62773567T>A | GRCh38 |
| NC_000018.9:g.60440800T>A , CM000680.1:g.60440800T>A | GRCh37 |
| NC_000018.8:g.58591780T>A | NCBI36 |
| NG_031923.1:g.63129T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262719.10:c.1576+56308T>A MANE Select | ENSP00000262719.4:n.1576+56308T>A | |
| ENST00000262719.9:c.1576+56308T>A | ENSP00000262719.4:n.1576+56308T>A | |
| NM_194449.3:c.1576+56308T>A | NP_919431.2:n.1576+56308T>A | |
| XM_011525886.1:c.1576+56308T>A | XP_011524188.1:n.1576+56308T>A | |
| XR_935564.1:n.212+249A>T | ||
| XR_935565.1:n.212+249A>T | ||
| XR_935566.1:n.212+249A>T | ||
| XR_935567.1:n.212+249A>T | ||
| XR_935568.1:n.212+249A>T | ||
| XR_935569.1:n.212+249A>T | ||
| XM_024451105.1:c.-48+32048T>A | XP_024306873.1:n.-48+32048T>A | |
| XR_001753474.2:n.40+249A>T | ||
| NM_194449.4:c.1576+56308T>A MANE Select | NP_919431.2:n.1576+56308T>A |