Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24678913G>T , CM000677.2:g.24678913G>T | GRCh38 |
| NC_000015.9:g.24924060G>T , CM000677.1:g.24924060G>T | GRCh37 |
| NC_000015.8:g.22475153G>T | NCBI36 |
| NG_021413.1:g.8520G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018958.3:c.3046G>T MANE Select | NP_061831.2:p.Asp1016Tyr |
| ENST00000329468.5:c.3046G>T MANE Select | ENSP00000333735.3:p.Asp1016Tyr |
| NM_018958.2:c.3046G>T | NP_061831.2:p.Asp1016Tyr |
| ENST00000329468.3:c.3046G>T | ENSP00000333735.2:p.Asp1016Tyr |