Canonical Allele Identifier:
CA2254736369
Gene:
Linked Data
dbSNP Id:
rs2069612917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29376312T>G , CM000679.2:g.29376312T>G | GRCh38 |
| NC_000017.10:g.27703330T>G , CM000679.1:g.27703330T>G | GRCh37 |
| NC_000017.9:g.24727456T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011525588.1:c.1008-6007A>C | XP_011523890.1:n.1008-6007A>C |