Canonical Allele Identifier:
CA2467802691
Gene:
Linked Data
dbSNP Id:
rs2052843143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.640995A>T , CM000686.2:g.640995A>T | GRCh38 |
| NC_000024.9:g.551730A>T , CM000686.1:g.551730A>T | GRCh37 |
| NC_000024.8:g.521730A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711141.1:c.545-4A>T | ENSP00000518639.1:n.545-4A>T | |
| ENST00000711142.1:c.545-4A>T | ENSP00000518640.1:n.545-4A>T | |
| ENST00000711143.1:c.545-4A>T | ENSP00000518641.1:n.545-4A>T | |
| ENST00000711145.1:c.545-4A>T | ENSP00000518642.1:n.545-4A>T |