Canonical Allele Identifier:
CA1148700047
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.817341A>C , CM000663.2:g.817341A>C | GRCh38 |
| NC_000001.10:g.752721A>C , CM000663.1:g.752721A>C | GRCh37 |
| NC_000001.9:g.742584A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634337.2:n.127+10329T>G | ||
| ENST00000635509.2:n.100+10329T>G | ||
| ENST00000447500.4:n.340+32T>G |