gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40499536 (AFR)
Genomes Max Group AF
0.40499536 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.59901568T>C , CM000663.2:g.59901568T>C | GRCh38 |
| NC_000001.10:g.60367240T>C , CM000663.1:g.60367240T>C | GRCh37 |
| NC_000001.9:g.60139828T>C | NCBI36 |
| NG_007931.1:g.30184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371204.4:c.1192-465A>G MANE Select | ENSP00000360247.3:n.1192-465A>G | |
| ENST00000468257.2:c.*134-465A>G | ENSP00000497807.1:n.*134-465A>G | |
| ENST00000469406.6:c.*1104-465A>G | ENSP00000497732.1:n.*1104-465A>G | |
| ENST00000371204.3:c.1192-465A>G | ENSP00000360247.3:n.1192-465A>G | |
| ENST00000466095.5:n.1019-465A>G | ||
| ENST00000469406.5:n.1358-465A>G | ||
| ENST00000492633.5:n.1897-465A>G | ||
| NM_000775.2:c.1192-465A>G | NP_000766.2:n.1192-465A>G | |
| XR_246240.2:n.1031-465A>G | ||
| XR_946558.1:n.1370-465A>G | ||
| NM_000775.3:c.1192-465A>G | NP_000766.2:n.1192-465A>G | |
| NR_134981.1:n.1056-465A>G | ||
| NR_134982.1:n.1395-465A>G | ||
| NM_000775.4:c.1192-465A>G MANE Select | NP_000766.2:n.1192-465A>G | |
| NR_134981.2:n.1031-465A>G | ||
| NR_134982.2:n.1370-465A>G |