gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30369401 (SAS)
Genomes Max Group AF
0.30369401 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23635832T>C , CM000682.2:g.23635832T>C | GRCh38 |
| NC_000020.10:g.23616469T>C , CM000682.1:g.23616469T>C | GRCh37 |
| NC_000020.9:g.23564469T>C | NCBI36 |
| NG_012887.2:g.7106A>G | |
| NG_012887.3:g.7106A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376925.8:c.244-465A>G MANE Select | ENSP00000366124.3:n.244-465A>G | |
| ENST00000376925.7:c.244-465A>G | ENSP00000366124.3:n.244-465A>G | |
| ENST00000398409.1:c.244-465A>G | ENSP00000381446.1:n.244-465A>G | |
| ENST00000398411.5:c.244-465A>G | ENSP00000381448.1:n.244-465A>G | |
| NM_000099.3:c.244-465A>G | NP_000090.1:n.244-465A>G | |
| NM_001288614.1:c.244-465A>G | NP_001275543.1:n.244-465A>G | |
| NM_000099.4:c.244-465A>G MANE Select | NP_000090.1:n.244-465A>G | |
| NM_001288614.2:c.244-465A>G | NP_001275543.1:n.244-465A>G |