gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19561112T>C , CM000686.2:g.19561112T>C | GRCh38 |
| NC_000024.9:g.21722998T>C , CM000686.1:g.21722998T>C | GRCh37 |
| NC_000024.8:g.20182386T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693243.1:n.27-2972A>G | ||
| ENST00000650676.1:n.111+5870A>G | ||
| ENST00000651484.1:n.71-2972A>G | ||
| XR_938626.1:n.2443A>G | ||
| XR_938627.1:n.2443A>G | ||
| XR_938628.1:n.271-2972A>G | ||
| XR_938629.1:n.2443A>G | ||
| XR_001756064.2:n.199-2972A>G | ||
| XR_001756065.1:n.199-2972A>G | ||
| XR_001756066.1:n.199-1693A>G | ||
| XR_938626.2:n.2839A>G | ||
| XR_938627.2:n.2839A>G | ||
| XR_938628.3:n.199-2972A>G |