Canonical Allele Identifier:
CA1846956624
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37579556G>C , CM000671.2:g.37579556G>C | GRCh38 |
| NC_000009.11:g.37579553G>C , CM000671.1:g.37579553G>C | GRCh37 |
| NC_000009.10:g.37569553G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537239.2:c.282+9255C>G | ENSP00000457849.1:n.282+9255C>G | |
| ENST00000541804.1:n.62+9257C>G | ||
| ENST00000544475.5:n.122+9197C>G |