Canonical Allele Identifier:
CA195215941
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.82521000A>G , CM000671.2:g.82521000A>G | GRCh38 |
| NC_000009.11:g.85135915A>G , CM000671.1:g.85135915A>G | GRCh37 |
| NC_000009.10:g.84325735A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589973.2:n.247+24142A>G | ||
| ENST00000590298.5:n.440-43029A>G | ||
| ENST00000590791.5:n.526-3519A>G | ||
| ENST00000591257.5:n.347-3519A>G | ||
| ENST00000637606.1:n.985+24142A>G | ||
| XR_001746782.1:n.241+24142A>G |