Canonical Allele Identifier:
CA1500738074
Gene:
Linked Data
dbSNP Id:
rs1733831311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144559787C>T , CM000666.2:g.144559787C>T | GRCh38 |
| NC_000004.11:g.145480939C>T , CM000666.1:g.145480939C>T | GRCh37 |
| NC_000004.10:g.145700389C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649263.1:c.328-143809G>A | ENSP00000497507.1:n.328-143809G>A | |
| XR_939272.1:n.178+2197G>A | ||
| XR_939273.1:n.178+2197G>A | ||
| XR_939272.2:n.522+2197G>A | ||
| XR_939273.2:n.522+2197G>A |