Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044807T>C , CM000674.2:g.5044807T>C | GRCh38 |
| NC_000012.11:g.5153973T>C , CM000674.1:g.5153973T>C | GRCh37 |
| NC_000012.10:g.5024234T>C | NCBI36 |
| NG_012198.1:g.5889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.660T>C MANE Select | ENSP00000252321.3:p.Ile220= | |
| ENST00000252321.4:c.660T>C | ENSP00000252321.3:p.Ile220= | |
| NM_002234.3:c.660T>C | NP_002225.2:p.Ile220= | |
| NM_002234.4:c.660T>C MANE Select | NP_002225.2:p.Ile220= |