Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176880C= , CM000674.2:g.21176880C= | GRCh38 |
| NC_000012.11:g.21329814C= , CM000674.1:g.21329814C= | GRCh37 |
| NC_000012.10:g.21221081C= | NCBI36 |
| NG_011745.1:g.50687C= , LRG_1022:g.50687C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.464C= MANE Select | ENSP00000256958.2:p.Pro155= | |
| ENST00000256958.2:c.464C= | ENSP00000256958.2:p.Pro155= | |
| ENST00000543498.5:c.530C= | ||
| NM_006446.4:c.464C= , LRG_1022t1:c.464C= | NP_006437.3:p.Pro155= | |
| NM_006446.5:c.464C= MANE Select | NP_006437.3:p.Pro155= |