Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339851A>C , CM000669.2:g.17339851A>C | GRCh38 |
| NC_000007.13:g.17379475A>C , CM000669.1:g.17379475A>C | GRCh37 |
| NC_000007.12:g.17346000A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.2026A>C MANE Select | ENSP00000242057.4:p.Thr676Pro | |
| ENST00000637807.1:c.1996A>C | ENSP00000490530.1:p.Thr666Pro | |
| ENST00000642825.1:c.1981A>C | ENSP00000495987.1:p.Thr661Pro | |
| ENST00000242057.8:c.2026A>C | ENSP00000242057.4:p.Thr676Pro | |
| ENST00000463496.1:c.2026A>C | ENSP00000436466.1:p.Thr676Pro | |
| NM_001621.4:c.2026A>C | NP_001612.1:p.Thr676Pro | |
| NM_001621.5:c.2026A>C MANE Select | NP_001612.1:p.Thr676Pro |