Canonical Allele Identifier:
CA62356719
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184597314T>G , CM000664.2:g.184597314T>G | GRCh38 |
| NC_000002.11:g.185462041T>G , CM000664.1:g.185462041T>G | GRCh37 |
| NC_000002.10:g.185170286T>G | NCBI36 |
| NG_046950.1:g.3949T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512285.1:c.619-938A>C | XP_011510587.1:n.619-938A>C | |
| XR_923658.1:n.946A>C | ||
| XR_923659.1:n.946A>C | ||
| XR_923660.1:n.947A>C | ||
| NR_171621.1:n.656-938A>C |