Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169509851G>T , CM000664.2:g.169509851G>T | GRCh38 |
| NC_000002.11:g.170366361G>T , CM000664.1:g.170366361G>T | GRCh37 |
| NC_000002.10:g.170074607G>T | NCBI36 |
| NG_042051.1:g.5150G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006063.3:c.73G>T MANE Select | NP_006054.2:p.Asp25Tyr |
| ENST00000284669.2:c.73G>T MANE Select | ENSP00000284669.1:p.Asp25Tyr |
| NM_006063.2:c.73G>T | NP_006054.2:p.Asp25Tyr |
| ENST00000284669.1:c.73G>T | ENSP00000284669.1:p.Asp25Tyr |
| ENST00000513963.1:c.925-4723G>T | ENSP00000424363.1:n.925-4723G>T |