Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1225491C= , CM000667.2:g.1225491C= | GRCh38 |
| NC_000005.9:g.1225606C= , CM000667.1:g.1225606C= | GRCh37 |
| NC_000005.8:g.1278606C= | NCBI36 |
| NG_008282.1:g.28897C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324642.4:c.14C= MANE Select | ENSP00000323549.3:p.Pro5= | |
| ENST00000324642.3:c.14C= | ENSP00000323549.3:p.Pro5= | |
| ENST00000513607.2:n.83C= | ||
| NM_182632.2:c.14C= | NP_872438.2:p.Pro5= | |
| NM_182632.3:c.14C= MANE Select | NP_872438.2:p.Pro5= |