gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67372019 (MID)
Genomes Max Group AF
0.6575924 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.85524075G>A , CM000677.2:g.85524075G>A | GRCh38 |
| NC_000015.9:g.86067306G>A , CM000677.1:g.86067306G>A | GRCh37 |
| NC_000015.8:g.83868310G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394518.7:c.181+2500G>A MANE Select | ENSP00000378026.3:n.181+2500G>A | |
| ENST00000361243.6:c.181+2500G>A | ENSP00000354718.2:n.181+2500G>A | |
| ENST00000394518.6:c.181+2500G>A | ENSP00000378026.2:n.181+2500G>A | |
| ENST00000559362.5:c.181+2500G>A | ENSP00000453768.1:n.181+2500G>A | |
| ENST00000560302.5:c.181+2500G>A | ENSP00000453634.1:n.181+2500G>A | |
| NM_006738.5:c.181+2500G>A | NP_006729.4:n.181+2500G>A | |
| NM_007200.4:c.181+2500G>A | NP_009131.2:n.181+2500G>A | |
| NM_006738.6:c.181+2500G>A | NP_006729.4:n.181+2500G>A | |
| NM_007200.5:c.181+2500G>A MANE Select | NP_009131.2:n.181+2500G>A |