Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31394115A>G , CM000676.2:g.31394115A>G | GRCh38 |
| NC_000014.8:g.31863321A>G , CM000676.1:g.31863321A>G | GRCh37 |
| NC_000014.7:g.30933072A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543095.7:c.709T>C MANE Select | ENSP00000437968.2:p.Ser237Pro | |
| ENST00000543095.6:c.709T>C | ENSP00000437968.2:p.Ser237Pro | |
| ENST00000549185.5:c.*805T>C | ENSP00000446654.1:n.*805T>C | |
| NM_015473.3:c.709T>C | NP_056288.2:p.Ser237Pro | |
| NM_015473.4:c.709T>C MANE Select | NP_056288.2:p.Ser237Pro |