Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413456C= , CM000665.2:g.147413456C= | GRCh38 |
| NC_000003.11:g.147131243C= , CM000665.1:g.147131243C= | GRCh37 |
| NC_000003.10:g.148613933C= | NCBI36 |
| NG_015886.1:g.9063C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1249C= MANE Select | ENSP00000282928.4:p.Pro417= | |
| ENST00000282928.4:c.1249C= | ENSP00000282928.4:p.Pro417= | |
| ENST00000472523.1:n.521+19514C= | ||
| ENST00000488404.5:c.315C= | ||
| NM_003412.3:c.1249C= | NP_003403.2:p.Pro417= | |
| NM_003412.4:c.1249C= MANE Select | NP_003403.2:p.Pro417= |