Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31394058C>G , CM000676.2:g.31394058C>G | GRCh38 |
| NC_000014.8:g.31863264C>G , CM000676.1:g.31863264C>G | GRCh37 |
| NC_000014.7:g.30933015C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543095.7:c.766G>C MANE Select | ENSP00000437968.2:p.Gly256Arg | |
| ENST00000543095.6:c.766G>C | ENSP00000437968.2:p.Gly256Arg | |
| ENST00000549185.5:c.*862G>C | ENSP00000446654.1:n.*862G>C | |
| NM_015473.3:c.766G>C | NP_056288.2:p.Gly256Arg | |
| NM_015473.4:c.766G>C MANE Select | NP_056288.2:p.Gly256Arg |