Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121846892G>T , CM000674.2:g.121846892G>T | GRCh38 |
| NC_000012.11:g.122284798G>T , CM000674.1:g.122284798G>T | GRCh37 |
| NC_000012.10:g.120769181G>T | NCBI36 |
| NG_016461.1:g.46720C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.801C>A MANE Select | ENSP00000289004.4:p.Ile267= | |
| ENST00000543163.5:c.684C>A | ENSP00000441677.1:p.Ile228= | |
| NM_001171993.1:c.684C>A | NP_001165464.1:p.Ile228= | |
| NM_002150.2:c.801C>A | NP_002141.1:p.Ile267= | |
| NM_002150.3:c.801C>A MANE Select | NP_002141.2:p.Ile267= | |
| NM_001171993.2:c.684C>A | NP_001165464.1:p.Ile228= |