Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86911448G>C , CM000666.2:g.86911448G>C | GRCh38 |
| NC_000004.11:g.87832601G>C , CM000666.1:g.87832601G>C | GRCh37 |
| NC_000004.10:g.88051625G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473559.5:c.-74+14780C>G | ENSP00000420949.1:n.-74+14780C>G | |
| ENST00000503001.5:n.438+14780C>G |