Linked Data
gnomAD v4:
12-56041617-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041617A>G , CM000674.2:g.56041617A>G | GRCh38 |
| NC_000012.11:g.56435401A>G , CM000674.1:g.56435401A>G | GRCh37 |
| NC_000012.10:g.54721668A>G | NCBI36 |
| NG_023201.1:g.4716A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-194A>G | ENSP00000348849.5:n.-356-194A>G | |
| XR_944989.1:n.96T>C | ||
| XR_944990.1:n.96T>C | ||
| XR_944989.3:n.387T>C | ||
| XR_944990.3:n.387T>C |