gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2511598 (NFE)
Genomes Max Group AF
0.2511598 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37236730T>A , CM000684.2:g.37236730T>A | GRCh38 |
| NC_000022.10:g.37632770T>A , CM000684.1:g.37632770T>A | GRCh37 |
| NC_000022.9:g.35962716T>A | NCBI36 |
| NG_007288.1:g.12536A>T , LRG_97:g.12536A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699915.1:n.166-3812A>T | ||
| ENST00000249071.11:c.108-3812A>T MANE Select | ENSP00000249071.6:n.108-3812A>T | |
| ENST00000249071.10:c.108-3812A>T | ENSP00000249071.6:n.108-3812A>T | |
| ENST00000405484.5:c.87-3812A>T | ENSP00000385590.1:n.87-3812A>T | |
| ENST00000406508.5:c.-25-3812A>T | ENSP00000385270.1:n.-25-3812A>T | |
| ENST00000441619.5:c.108-3812A>T | ENSP00000403778.1:n.108-3812A>T | |
| ENST00000469532.1:n.238-3812A>T | ||
| NM_002872.4:c.108-3812A>T | NP_002863.1:n.108-3812A>T | |
| XM_006724286.2:c.108-3812A>T | XP_006724349.1:n.108-3812A>T | |
| XM_006724286.3:c.108-3812A>T | XP_006724349.1:n.108-3812A>T | |
| NM_002872.5:c.108-3812A>T MANE Select | NP_002863.1:n.108-3812A>T |