Linked Data
gnomAD v4:
6-44313393-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313393C>A , CM000668.2:g.44313393C>A | GRCh38 |
| NC_000006.11:g.44281130C>A , CM000668.1:g.44281130C>A | GRCh37 |
| NC_000006.10:g.44389108C>A | NCBI36 |
| NG_031952.1:g.4934G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5751C>A | ||
| NM_001318876.2:c.946-128497C>A | NP_001305805.1:n.946-128497C>A |