Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644422C>T , CM000677.2:g.23644422C>T | GRCh38 |
| NC_000015.9:g.23889569C>T , CM000677.1:g.23889569C>T | GRCh37 |
| NC_000015.8:g.21440662C>T | NCBI36 |
| NG_016776.1:g.8425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.3321G>A MANE Select | ENSP00000497810.1:p.Arg1107= | |
| ENST00000532292.2:c.3321G>A | ENSP00000433433.2:p.Arg1107= | |
| NM_019066.4:c.3321G>A | NP_061939.3:p.Arg1107= | |
| NM_019066.5:c.3321G>A MANE Select | NP_061939.3:p.Arg1107= |