Canonical Allele Identifier:
CA2000590021
Gene:
Linked Data
dbSNP Id:
rs1866698626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164834T>C , CM000673.2:g.112164834T>C | GRCh38 |
| NC_000011.9:g.112035557T>C , CM000673.1:g.112035557T>C | GRCh37 |
| NC_000011.8:g.111540767T>C | NCBI36 |
| NG_028143.1:g.4284A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525987.5:n.320-5585T>C | ||
| ENST00000531744.5:c.315-5585T>C | ENSP00000456957.1:n.315-5585T>C | |
| ENST00000532699.1:c.315-5585T>C | ENSP00000456434.1:n.315-5585T>C |