Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45175881A= , CM000682.2:g.45175881A= | GRCh38 |
| NC_000020.10:g.43804522A= , CM000682.1:g.43804522A= | GRCh37 |
| NC_000020.9:g.43237936A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002638.4:c.100A= MANE Select | NP_002629.1:p.Thr34= |
| ENST00000243924.4:c.100A= MANE Select | ENSP00000243924.3:p.Thr34= |
| NM_002638.3:c.100A= | NP_002629.1:p.Thr34= |
| ENST00000243924.3:c.100A= | ENSP00000243924.3:p.Thr34= |