Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877081C>A , CM000668.2:g.131877081C>A | GRCh38 |
| NC_000006.11:g.132198221C>A , CM000668.1:g.132198221C>A | GRCh37 |
| NC_000006.10:g.132239914C>A | NCBI36 |
| NG_008206.1:g.74066C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.685C>A | ||
| ENST00000684536.1:n.311C>A | ||
| ENST00000647893.1:c.1813C>A MANE Select | ENSP00000498074.1:p.Pro605Thr | |
| ENST00000647981.1:n.498C>A | ||
| ENST00000650437.1:c.1304C>A | ||
| ENST00000360971.6:c.1813C>A | ENSP00000354238.2:p.Pro605Thr | |
| ENST00000459624.1:n.857C>A | ||
| ENST00000513998.5:c.*650C>A | ENSP00000422424.1:n.*650C>A | |
| NM_006208.2:c.1813C>A | NP_006199.2:p.Pro605Thr | |
| XM_011535896.1:c.703C>A | XP_011534198.1:p.Pro235Thr | |
| NM_006208.3:c.1813C>A MANE Select | NP_006199.2:p.Pro605Thr |