gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02229634 (AFR)
Genomes Max Group AF
0.02229634 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100887948T>G , CM000677.2:g.100887948T>G | GRCh38 |
| NC_000015.9:g.101428153T>G , CM000677.1:g.101428153T>G | GRCh37 |
| NC_000015.8:g.99245676T>G | NCBI36 |
| NG_012254.1:g.13145T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329841.10:c.345+236T>G MANE Select | ENSP00000332256.5:n.345+236T>G | |
| ENST00000329841.9:c.345+236T>G | ENSP00000332256.5:n.345+236T>G | |
| ENST00000346623.6:c.345+236T>G | ENSP00000343294.6:n.345+236T>G | |
| ENST00000558033.5:c.345+236T>G | ENSP00000454107.1:n.345+236T>G | |
| ENST00000560555.1:n.405+236T>G | ||
| ENST00000561338.5:c.261+236T>G | ENSP00000452789.1:n.261+236T>G | |
| NM_000693.3:c.345+236T>G | NP_000684.2:n.345+236T>G | |
| NM_001293815.1:c.345+236T>G | NP_001280744.1:n.345+236T>G | |
| NM_000693.4:c.345+236T>G MANE Select | NP_000684.2:n.345+236T>G | |
| NM_001293815.2:c.345+236T>G | NP_001280744.1:n.345+236T>G |