gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65373012 (AFR)
Genomes Max Group AF
0.65398312 (AFR)
Exomes Max Group AF
0.66039569 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61790331T>C , CM000673.2:g.61790331T>C | GRCh38 |
| NC_000011.9:g.61557803T>C , CM000673.1:g.61557803T>C | GRCh37 |
| NC_000011.8:g.61314379T>C | NCBI36 |
| NG_047038.1:g.42695T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537328.6:c.113+162A>G MANE Select | ENSP00000443216.1:n.113+162A>G | |
| ENST00000257262.12:c.113+162A>G | ENSP00000257262.8:n.113+162A>G | |
| ENST00000535042.1:n.111+162A>G | ||
| ENST00000535297.1:c.*81+44A>G | ENSP00000437809.1:n.*81+44A>G | |
| ENST00000537328.5:c.113+162A>G | ENSP00000443216.1:n.113+162A>G | |
| ENST00000540434.1:n.319A>G | ||
| ENST00000541893.5:c.*33+92A>G | ENSP00000441836.1:n.*33+92A>G | |
| ENST00000543510.1:c.98+162A>G | ENSP00000443836.1:n.98+162A>G | |
| ENST00000545210.5:c.*81+44A>G | ENSP00000445404.1:n.*81+44A>G | |
| NM_014206.3:c.113+162A>G | NP_055021.1:n.113+162A>G | |
| NM_014206.4:c.113+162A>G MANE Select | NP_055021.1:n.113+162A>G |