gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15778875 (NFE)
Genomes Max Group AF
0.15778875 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72902395A>G , CM000671.2:g.72902395A>G | GRCh38 |
| NC_000009.11:g.75517311A>G , CM000671.1:g.75517311A>G | GRCh37 |
| NC_000009.10:g.74707131A>G | NCBI36 |
| NG_012249.1:g.55659T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297785.8:c.1434-1115T>C MANE Select | ENSP00000297785.3:n.1434-1115T>C | |
| ENST00000297785.7:c.1434-1115T>C | ENSP00000297785.3:n.1434-1115T>C | |
| NM_000689.4:c.1434-1115T>C | NP_000680.2:n.1434-1115T>C | |
| NM_000689.5:c.1434-1115T>C MANE Select | NP_000680.2:n.1434-1115T>C |