Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9936363A>T , CM000681.2:g.9936363A>T | GRCh38 |
| NC_000019.9:g.10047039A>T , CM000681.1:g.10047039A>T | GRCh37 |
| NC_000019.8:g.9908039A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058164.4:c.4T>A MANE Select | NP_477512.1:p.Trp2Arg |
| ENST00000264833.9:c.4T>A MANE Select | ENSP00000264833.3:p.Trp2Arg |
| NM_058164.3:c.4T>A | NP_477512.1:p.Trp2Arg |
| ENST00000264833.8:c.4T>A | ENSP00000264833.3:p.Trp2Arg |