Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313359G>C , CM000668.2:g.44313359G>C | GRCh38 |
| NC_000006.11:g.44281096G>C , CM000668.1:g.44281096G>C | GRCh37 |
| NC_000006.10:g.44389074G>C | NCBI36 |
| NG_031952.1:g.4968C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5717G>C | ||
| NM_001318876.2:c.946-128531G>C | NP_001305805.1:n.946-128531G>C |