Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247862G>C , CM000681.2:g.39247862G>C | GRCh38 |
| NC_000019.9:g.39738502G>C , CM000681.1:g.39738502G>C | GRCh37 |
| NC_000019.8:g.44430342G>C | NCBI36 |
| NG_042193.1:g.2110C>G | |
| NG_055295.1:g.5995C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.224-11C>G | ENSP00000476098.1:n.224-11C>G | |
| ENST00000610963.1:c.223-11C>G | ENSP00000481371.1:n.223-11C>G | |
| ENST00000616270.4:c.223+62C>G | ENSP00000480679.1:n.223+62C>G | |
| ENST00000634680.1:c.152-399C>G | ENSP00000489240.1:n.152-399C>G | |
| ENST00000634967.1:c.223+62C>G | ENSP00000489559.1:n.223+62C>G | |
| NR_074079.1:n.501-11C>G |