Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656453A>T , CM000682.2:g.10656453A>T | GRCh38 |
| NC_000020.10:g.10637101A>T , CM000682.1:g.10637101A>T | GRCh37 |
| NC_000020.9:g.10585101A>T | NCBI36 |
| NG_007496.1:g.22594T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.700T>A MANE Select | ENSP00000254958.4:p.Cys234Ser | |
| ENST00000254958.9:c.700T>A | ENSP00000254958.4:p.Cys234Ser | |
| ENST00000423891.6:n.566T>A | ||
| NM_000214.2:c.700T>A | NP_000205.1:p.Cys234Ser | |
| NM_000214.3:c.700T>A MANE Select | NP_000205.1:p.Cys234Ser |