gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55440619 (EAS)
Genomes Max Group AF
0.55440619 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72901960A>C , CM000671.2:g.72901960A>C | GRCh38 |
| NC_000009.11:g.75516876A>C , CM000671.1:g.75516876A>C | GRCh37 |
| NC_000009.10:g.74706696A>C | NCBI36 |
| NG_012249.1:g.56094T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297785.8:c.1434-680T>G MANE Select | ENSP00000297785.3:n.1434-680T>G | |
| ENST00000297785.7:c.1434-680T>G | ENSP00000297785.3:n.1434-680T>G | |
| NM_000689.4:c.1434-680T>G | NP_000680.2:n.1434-680T>G | |
| NM_000689.5:c.1434-680T>G MANE Select | NP_000680.2:n.1434-680T>G |