Canonical Allele Identifier:
CA2000590015
Gene:
Linked Data
dbSNP Id:
rs1866698343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164823G>C , CM000673.2:g.112164823G>C | GRCh38 |
| NC_000011.9:g.112035546G>C , CM000673.1:g.112035546G>C | GRCh37 |
| NC_000011.8:g.111540756G>C | NCBI36 |
| NG_028143.1:g.4295C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525987.5:n.320-5596G>C | ||
| ENST00000531744.5:c.315-5596G>C | ENSP00000456957.1:n.315-5596G>C | |
| ENST00000532699.1:c.315-5596G>C | ENSP00000456434.1:n.315-5596G>C |