Linked Data
gnomAD v4:
12-56041595-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041595A>C , CM000674.2:g.56041595A>C | GRCh38 |
| NC_000012.11:g.56435379A>C , CM000674.1:g.56435379A>C | GRCh37 |
| NC_000012.10:g.54721646A>C | NCBI36 |
| NG_023201.1:g.4694A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-357+199A>C | ENSP00000348849.5:n.-357+199A>C | |
| XR_944989.1:n.118T>G | ||
| XR_944990.1:n.118T>G | ||
| XR_944989.3:n.409T>G | ||
| XR_944990.3:n.409T>G |