Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71972526C= , CM000674.2:g.71972526C= | GRCh38 |
| NC_000012.11:g.72366306C= , CM000674.1:g.72366306C= | GRCh37 |
| NC_000012.10:g.70652573C= | NCBI36 |
| NG_008279.1:g.38681C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.616C= MANE Select | NP_775489.2:p.Pro206= |
| ENST00000333850.4:c.616C= MANE Select | ENSP00000329093.3:p.Pro206= |
| NM_173353.3:c.616C= | NP_775489.2:p.Pro206= |
| ENST00000333850.3:c.616C= | ENSP00000329093.3:p.Pro206= |
| XM_011537899.1:c.22C= | XP_011536201.1:p.Pro8= |