Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446796C>A , CM000666.2:g.39446796C>A | GRCh38 |
| NC_000004.11:g.39448416C>A , CM000666.1:g.39448416C>A | GRCh37 |
| NC_000004.10:g.39124811C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2070C>A MANE Select | ENSP00000257408.4:p.Thr690= | |
| ENST00000257408.4:c.2070C>A | ENSP00000257408.4:p.Thr690= | |
| NM_175737.3:c.2070C>A | NP_783864.1:p.Thr690= | |
| XM_005262644.1:c.2043C>A | XP_005262701.1:p.Thr681= | |
| NM_175737.4:c.2070C>A MANE Select | NP_783864.1:p.Thr690= |