Canonical Allele Identifier:
CA2000590713
Gene:
Linked Data
dbSNP Id:
rs1866727327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112166713A>G , CM000673.2:g.112166713A>G | GRCh38 |
| NC_000011.9:g.112037436A>G , CM000673.1:g.112037436A>G | GRCh37 |
| NC_000011.8:g.111542646A>G | NCBI36 |
| NG_028143.1:g.2405T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525987.5:n.320-3706A>G | ||
| ENST00000531744.5:c.315-3706A>G | ENSP00000456957.1:n.315-3706A>G | |
| ENST00000532699.1:c.315-3706A>G | ENSP00000456434.1:n.315-3706A>G |