Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649603C>T , CM000676.2:g.60649603C>T | GRCh38 |
| NC_000014.8:g.61116321C>T , CM000676.1:g.61116321C>T | GRCh37 |
| NC_000014.7:g.60186074C>T | NCBI36 |
| NG_008231.1:g.4835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553535.2:n.248+2332G>A | ||
| ENST00000554986.2:c.42-3026G>A | ENSP00000452700.2:n.42-3026G>A | |
| ENST00000555955.3:n.1197+2332G>A |