Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33055256C= , CM000675.2:g.33055256C= | GRCh38 |
| NC_000013.10:g.33629393C= , CM000675.1:g.33629393C= | GRCh37 |
| NC_000013.9:g.32527393C= | NCBI36 |
| NG_011485.1:g.43823C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004795.4:c.1540C= MANE Select | NP_004786.2:p.Pro514= |
| ENST00000380099.4:c.1540C= MANE Select | ENSP00000369442.3:p.Pro514= |
| NM_004795.3:c.1540C= | NP_004786.2:p.Pro514= |
| ENST00000380099.3:c.1540C= | ENSP00000369442.3:p.Pro514= |
| ENST00000487852.1:n.1548C= | |
| XM_006719895.1:c.619C= | XP_006719958.1:p.Pro207= |
| XM_006719895.2:c.619C= | XP_006719958.1:p.Pro207= |