Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31394109A>C , CM000676.2:g.31394109A>C | GRCh38 |
| NC_000014.8:g.31863315A>C , CM000676.1:g.31863315A>C | GRCh37 |
| NC_000014.7:g.30933066A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543095.7:c.715T>G MANE Select | ENSP00000437968.2:p.Ser239Ala | |
| ENST00000543095.6:c.715T>G | ENSP00000437968.2:p.Ser239Ala | |
| ENST00000549185.5:c.*811T>G | ENSP00000446654.1:n.*811T>G | |
| NM_015473.3:c.715T>G | NP_056288.2:p.Ser239Ala | |
| NM_015473.4:c.715T>G MANE Select | NP_056288.2:p.Ser239Ala |