gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94542417 (NFE)
Genomes Max Group AF
0.94542417 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58526584G>A , CM000677.2:g.58526584G>A | GRCh38 |
| NC_000015.9:g.58818783G>A , CM000677.1:g.58818783G>A | GRCh37 |
| NC_000015.8:g.56606075G>A | NCBI36 |
| NG_011465.1:g.99609G>A | |
| NG_011465.2:g.99609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.89-11749G>A MANE Select | ENSP00000299022.5:n.89-11749G>A | |
| ENST00000299022.9:c.89-11749G>A | ENSP00000299022.5:n.89-11749G>A | |
| ENST00000356113.10:c.89-11749G>A | ENSP00000348425.6:n.89-11749G>A | |
| ENST00000414170.7:c.89-11749G>A | ENSP00000395569.3:n.89-11749G>A | |
| ENST00000433326.2:c.89-11749G>A | ENSP00000395002.2:n.89-11749G>A | |
| ENST00000559845.5:n.131-15201G>A | ||
| NM_000236.2:c.89-11749G>A | NP_000227.2:n.89-11749G>A | |
| XM_005254372.1:c.89-11749G>A | XP_005254429.1:n.89-11749G>A | |
| XM_011521551.1:c.89-11749G>A | XP_011519853.1:n.89-11749G>A | |
| XM_024449916.1:c.89-11749G>A | XP_024305684.1:n.89-11749G>A | |
| XM_024449917.1:c.89-11749G>A | XP_024305685.1:n.89-11749G>A | |
| NM_000236.3:c.89-11749G>A MANE Select | NP_000227.2:n.89-11749G>A |