Canonical Allele Identifier:
CA2467802650
Gene:
Linked Data
dbSNP Id:
rs2052842207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.640939C>T , CM000686.2:g.640939C>T | GRCh38 |
| NC_000024.9:g.551674C>T , CM000686.1:g.551674C>T | GRCh37 |
| NC_000024.8:g.521674C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711141.1:c.545-60C>T | ENSP00000518639.1:n.545-60C>T | |
| ENST00000711142.1:c.545-60C>T | ENSP00000518640.1:n.545-60C>T | |
| ENST00000711143.1:c.545-60C>T | ENSP00000518641.1:n.545-60C>T | |
| ENST00000711145.1:c.545-60C>T | ENSP00000518642.1:n.545-60C>T |