Linked Data
gnomAD v3:
12-56041697-A-C
gnomAD v4:
12-56041697-A-C
MyVariant Identifiers:
chr12:g.56435481A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041697A>C , CM000674.2:g.56041697A>C | GRCh38 |
| NC_000012.11:g.56435481A>C , CM000674.1:g.56435481A>C | GRCh37 |
| NC_000012.10:g.54721748A>C | NCBI36 |
| NG_023201.1:g.4796A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-114A>C | ENSP00000348849.5:n.-356-114A>C | |
| XR_944989.1:n.16T>G | ||
| XR_944990.1:n.16T>G | ||
| XR_944989.3:n.307T>G | ||
| XR_944990.3:n.307T>G |