Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100354706A>T , CM000672.2:g.100354706A>T | GRCh38 |
| NC_000010.10:g.102114463A>T , CM000672.1:g.102114463A>T | GRCh37 |
| NC_000010.9:g.102104453A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005063.5:c.647+74A>T MANE Select | NP_005054.3:n.647+74A>T |
| ENST00000370355.3:c.647+74A>T MANE Select | ENSP00000359380.2:n.647+74A>T |
| NM_005063.4:c.647+74A>T | NP_005054.3:n.647+74A>T |
| ENST00000370355.2:c.647+74A>T | ENSP00000359380.2:n.647+74A>T |