ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00124668 (AFR)
Genomes Max Group AF
0.00119396 (AFR)
Exomes Max Group AF
0.00110968 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674809T>C , CM000671.2:g.136674809T>C | GRCh38 |
| NC_000009.11:g.139569261T>C , CM000671.1:g.139569261T>C | GRCh37 |
| NC_000009.10:g.138689082T>C | NCBI36 |
| NG_008090.1:g.17651A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.589-2A>G MANE Select | ENSP00000360761.2:n.589-2A>G | |
| ENST00000371694.7:c.493-2A>G | ENSP00000360759.3:n.493-2A>G | |
| ENST00000371696.6:c.589-2A>G | ENSP00000360761.2:n.589-2A>G | |
| ENST00000472820.1:n.517-2A>G | ||
| ENST00000538402.1:c.589-2A>G | ENSP00000438919.1:n.589-2A>G | |
| NM_001012727.1:c.493-2A>G | NP_001012745.1:n.493-2A>G | |
| NM_006412.3:c.589-2A>G | NP_006403.2:n.589-2A>G | |
| NM_006412.4:c.589-2A>G MANE Select | NP_006403.2:n.589-2A>G | |
| NM_001012727.2:c.493-2A>G | NP_001012745.1:n.493-2A>G |