Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23645747G>C , CM000677.2:g.23645747G>C | GRCh38 |
| NC_000015.9:g.23890894G>C , CM000677.1:g.23890894G>C | GRCh37 |
| NC_000015.8:g.21441987G>C | NCBI36 |
| NG_016776.1:g.7100C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019066.5:c.1996C>G MANE Select | NP_061939.3:p.Gln666Glu |
| ENST00000650528.1:c.1996C>G MANE Select | ENSP00000497810.1:p.Gln666Glu |
| NM_019066.4:c.1996C>G | NP_061939.3:p.Gln666Glu |
| ENST00000532292.2:c.1996C>G | ENSP00000433433.2:p.Gln666Glu |