Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42353853C>A , CM000681.2:g.42353853C>A | GRCh38 |
| NC_000019.9:g.42858005C>A , CM000681.1:g.42858005C>A | GRCh37 |
| NC_000019.8:g.47549845C>A | NCBI36 |
| NG_033030.1:g.33245C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271938.2:c.3840C>A MANE Select | NP_001258867.1:p.Arg1280= |
| ENST00000251268.11:c.3840C>A MANE Select | ENSP00000251268.5:p.Arg1280= |
| NM_001271938.1:c.3840C>A | NP_001258867.1:p.Arg1280= |
| NM_001410.2:c.3639C>A | NP_001401.2:p.Arg1213= |
| NM_001410.3:c.3639C>A | NP_001401.2:p.Arg1213= |
| ENST00000251268.10:c.3840C>A | ENSP00000251268.5:p.Arg1280= |
| ENST00000334370.8:c.3639C>A | ENSP00000334219.4:p.Arg1213= |
| ENST00000378073.5:c.-3246C>A | ENSP00000367313.4:n.-3246C>A |