Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954164A>T , CM000670.2:g.19954164A>T | GRCh38 |
| NC_000008.10:g.19811675A>T , CM000670.1:g.19811675A>T | GRCh37 |
| NC_000008.9:g.19855955A>T | NCBI36 |
| NG_008855.1:g.20094A>T | |
| NG_008855.2:g.57448A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.586A>T MANE Select | ENSP00000497642.1:p.Ser196Cys | |
| ENST00000311322.8:c.586A>T | ENSP00000309757.6:p.Ser196Cys | |
| NM_000237.2:c.586A>T | NP_000228.1:p.Ser196Cys | |
| NM_000237.3:c.586A>T MANE Select | NP_000228.1:p.Ser196Cys |