Canonical Allele Identifier:
CA2000589955
Gene:
Linked Data
dbSNP Id:
rs1866694170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164690C>T , CM000673.2:g.112164690C>T | GRCh38 |
| NC_000011.9:g.112035413C>T , CM000673.1:g.112035413C>T | GRCh37 |
| NC_000011.8:g.111540623C>T | NCBI36 |
| NG_028143.1:g.4428G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525987.5:n.320-5729C>T | ||
| ENST00000531744.5:c.315-5729C>T | ENSP00000456957.1:n.315-5729C>T | |
| ENST00000532699.1:c.315-5729C>T | ENSP00000456434.1:n.315-5729C>T |