Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045005G>C , CM000674.2:g.5045005G>C | GRCh38 |
| NC_000012.11:g.5154171G>C , CM000674.1:g.5154171G>C | GRCh37 |
| NC_000012.10:g.5024432G>C | NCBI36 |
| NG_012198.1:g.6087G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.858G>C MANE Select | ENSP00000252321.3:p.Pro286= | |
| ENST00000252321.4:c.858G>C | ENSP00000252321.3:p.Pro286= | |
| NM_002234.3:c.858G>C | NP_002225.2:p.Pro286= | |
| NM_002234.4:c.858G>C MANE Select | NP_002225.2:p.Pro286= |