Canonical Allele Identifier:
CA15347096
Gene:
Linked Data
ClinVar Variation Id:
870131
dbSNP Id:
rs1828591
gnomAD v2:
4-145480780-A-G
gnomAD v3:
4-144559628-A-G
gnomAD v4:
4-144559628-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144559628A>G , CM000666.2:g.144559628A>G | GRCh38 |
| NC_000004.11:g.145480780A>G , CM000666.1:g.145480780A>G | GRCh37 |
| NC_000004.10:g.145700230A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649263.1:c.328-143650T>C | ENSP00000497507.1:n.328-143650T>C | |
| XR_939272.1:n.178+2356T>C | ||
| XR_939273.1:n.178+2356T>C | ||
| XR_939272.2:n.522+2356T>C | ||
| XR_939273.2:n.522+2356T>C |