Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649541C>G , CM000676.2:g.60649541C>G | GRCh38 |
| NC_000014.8:g.61116259C>G , CM000676.1:g.61116259C>G | GRCh37 |
| NC_000014.7:g.60186012C>G | NCBI36 |
| NG_008231.1:g.4897G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553535.2:n.248+2394G>C | ||
| ENST00000554986.2:c.42-2964G>C | ENSP00000452700.2:n.42-2964G>C | |
| ENST00000555955.3:n.1197+2394G>C |