Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446920C= , CM000666.2:g.39446920C= | GRCh38 |
| NC_000004.11:g.39448540C= , CM000666.1:g.39448540C= | GRCh37 |
| NC_000004.10:g.39124935C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2194C= MANE Select | ENSP00000257408.4:p.Pro732= | |
| ENST00000257408.4:c.2194C= | ENSP00000257408.4:p.Pro732= | |
| NM_175737.3:c.2194C= | NP_783864.1:p.Pro732= | |
| XM_005262644.1:c.2167C= | XP_005262701.1:p.Pro723= | |
| NM_175737.4:c.2194C= MANE Select | NP_783864.1:p.Pro732= |