Linked Data
gnomAD v4:
6-44313386-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313386C>G , CM000668.2:g.44313386C>G | GRCh38 |
| NC_000006.11:g.44281123C>G , CM000668.1:g.44281123C>G | GRCh37 |
| NC_000006.10:g.44389101C>G | NCBI36 |
| NG_031952.1:g.4941G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5744C>G | ||
| NM_001318876.2:c.946-128504C>G | NP_001305805.1:n.946-128504C>G |