Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52452153G= , CM000665.2:g.52452153G= | GRCh38 |
| NC_000003.11:g.52486169G= , CM000665.1:g.52486169G= | GRCh37 |
| NC_000003.10:g.52461209G= | NCBI36 |
| NG_008963.1:g.6889C= , LRG_378:g.6889C= | |
| NG_033112.1:g.1646G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.155C= MANE Select | ENSP00000232975.3:p.Pro52= | |
| ENST00000232975.7:c.155C= | ENSP00000232975.3:p.Pro52= | |
| ENST00000496590.1:c.23C= | ENSP00000420596.1:p.Pro8= | |
| NM_003280.2:c.155C= , LRG_378t1:c.155C= | NP_003271.1:p.Pro52= | |
| NM_003280.3:c.155C= MANE Select | NP_003271.1:p.Pro52= |