Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756599A>T , CM000683.2:g.41756599A>T | GRCh38 |
| NC_000021.8:g.43176759A>T , CM000683.1:g.43176759A>T | GRCh37 |
| NC_000021.7:g.42049828A>T | NCBI36 |
| NG_032113.1:g.15491T>A | |
| NG_032113.2:g.15491T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.400T>A MANE Select | ENSP00000332454.3:p.Cys134Ser | |
| ENST00000332512.7:c.400T>A | ENSP00000332454.3:p.Cys134Ser | |
| ENST00000352483.3:c.400T>A | ENSP00000330161.2:p.Cys134Ser | |
| NM_020639.2:c.400T>A | NP_065690.2:p.Cys134Ser | |
| NM_020639.3:c.400T>A MANE Select | NP_065690.2:p.Cys134Ser |