Canonical Allele Identifier:
CA1148700063
Community Standard Title: NC_000001.11:g.817341A>T
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.817341A>T , CM000663.2:g.817341A>T | GRCh38 |
| NC_000001.10:g.752721A>T , CM000663.1:g.752721A>T | GRCh37 |
| NC_000001.9:g.742584A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000447500.4:n.340+32T>A | |
| ENST00000634337.2:n.127+10329T>A | |
| ENST00000635509.2:n.100+10329T>A |