Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668123G= , CM000670.2:g.86668123G= | GRCh38 |
| NC_000008.10:g.87680351G= , CM000670.1:g.87680351G= | GRCh37 |
| NC_000008.9:g.87749467G= | NCBI36 |
| NG_016980.1:g.80553C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.539C= MANE Select | ENSP00000316605.5:p.Pro180= | |
| ENST00000681746.1:c.539C= | ENSP00000505959.1:p.Pro180= | |
| ENST00000320005.5:c.539C= | ENSP00000316605.5:p.Pro180= | |
| NM_019098.4:c.539C= | NP_061971.3:p.Pro180= | |
| XM_011517138.1:c.125C= | XP_011515440.1:p.Pro42= | |
| XM_011517138.2:c.125C= | XP_011515440.1:p.Pro42= | |
| NM_019098.5:c.539C= MANE Select | NP_061971.3:p.Pro180= |