Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224181G>A , CM000665.2:g.52224181G>A | GRCh38 |
| NC_000003.11:g.52258197G>A , CM000665.1:g.52258197G>A | GRCh37 |
| NC_000003.10:g.52233237G>A | NCBI36 |
| NG_033933.1:g.6983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.135C>T MANE Select | ENSP00000353874.2:p.Cys45= | |
| ENST00000360658.2:c.135C>T | ENSP00000353874.2:p.Cys45= | |
| ENST00000478201.1:c.309C>T | ||
| ENST00000494383.1:c.595C>T | ||
| NM_017442.3:c.135C>T | NP_059138.1:p.Cys45= | |
| NM_017442.4:c.135C>T MANE Select | NP_059138.1:p.Cys45= |