Canonical Allele Identifier:
CA1283591720
Gene:
Linked Data
dbSNP Id:
rs1678951638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120551797T>G , CM000664.2:g.120551797T>G | GRCh38 |
| NC_000002.11:g.121309373T>G , CM000664.1:g.121309373T>G | GRCh37 |
| NC_000002.10:g.121025843T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923262.1:n.1487+91A>C | ||
| XR_001739680.2:n.1495+91A>C | ||
| XR_001739681.2:n.2128+91A>C | ||
| XR_001739682.1:n.1495+91A>C | ||
| XR_002959417.1:n.1495+91A>C |