Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539561G>C , CM000665.2:g.186539561G>C | GRCh38 |
| NC_000003.11:g.186257350G>C , CM000665.1:g.186257350G>C | GRCh37 |
| NC_000003.10:g.187740044G>C | NCBI36 |
| NG_009829.1:g.9818C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.58C>G MANE Select | ENSP00000312099.5:p.Arg20Gly | |
| ENST00000307944.5:c.58C>G | ENSP00000312099.5:p.Arg20Gly | |
| ENST00000392499.6:c.58C>G | ENSP00000376287.2:p.Arg20Gly | |
| ENST00000460288.1:n.960C>G | ||
| NM_017541.2:c.58C>G | NP_060011.1:p.Arg20Gly | |
| NM_017541.3:c.58C>G | NP_060011.1:p.Arg20Gly | |
| NM_017541.4:c.58C>G MANE Select | NP_060011.1:p.Arg20Gly |