Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225389T>A , CM000668.2:g.3225389T>A | GRCh38 |
| NC_000006.11:g.3225623T>A , CM000668.1:g.3225623T>A | GRCh37 |
| NC_000006.10:g.3170622T>A | NCBI36 |
| NG_016715.1:g.7346A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.700A>T MANE Select | ENSP00000259818.6:p.Ser234Cys | |
| ENST00000680070.1:n.1630A>T | ||
| ENST00000681707.1:n.1527A>T | ||
| ENST00000681757.1:n.1005A>T | ||
| ENST00000259818.7:c.700A>T | ENSP00000259818.6:p.Ser234Cys | |
| ENST00000473006.1:n.817A>T | ||
| NM_178012.4:c.700A>T | NP_821080.1:p.Ser234Cys | |
| XM_011514571.1:c.484A>T | XP_011512873.1:p.Ser162Cys | |
| NM_178012.5:c.700A>T MANE Select | NP_821080.1:p.Ser234Cys |