Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45175881A>C , CM000682.2:g.45175881A>C | GRCh38 |
| NC_000020.10:g.43804522A>C , CM000682.1:g.43804522A>C | GRCh37 |
| NC_000020.9:g.43237936A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002638.4:c.100A>C MANE Select | NP_002629.1:p.Thr34Pro |
| ENST00000243924.4:c.100A>C MANE Select | ENSP00000243924.3:p.Thr34Pro |
| NM_002638.3:c.100A>C | NP_002629.1:p.Thr34Pro |
| ENST00000243924.3:c.100A>C | ENSP00000243924.3:p.Thr34Pro |