Canonical Allele Identifier:
CA2467792772
Community Standard Title: NC_000024.10:g.631617T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.631617T>C , CM000686.2:g.631617T>C | GRCh38 |
| NC_000024.9:g.542352T>C , CM000686.1:g.542352T>C | GRCh37 |
| NC_000024.8:g.512352T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000711141.1:c.277+443T>C | ENSP00000518639.1:n.277+443T>C |
| ENST00000711142.1:c.277+443T>C | ENSP00000518640.1:n.277+443T>C |
| ENST00000711143.1:c.277+443T>C | ENSP00000518641.1:n.277+443T>C |
| ENST00000711145.1:c.277+443T>C | ENSP00000518642.1:n.277+443T>C |