Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539464C>G , CM000665.2:g.186539464C>G | GRCh38 |
| NC_000003.11:g.186257253C>G , CM000665.1:g.186257253C>G | GRCh37 |
| NC_000003.10:g.187739947C>G | NCBI36 |
| NG_009829.1:g.9915G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.155G>C MANE Select | ENSP00000312099.5:p.Arg52Thr | |
| ENST00000307944.5:c.155G>C | ENSP00000312099.5:p.Arg52Thr | |
| ENST00000392499.6:c.155G>C | ENSP00000376287.2:p.Arg52Thr | |
| ENST00000460288.1:n.1057G>C | ||
| NM_017541.2:c.155G>C | NP_060011.1:p.Arg52Thr | |
| NM_017541.3:c.155G>C | NP_060011.1:p.Arg52Thr | |
| NM_017541.4:c.155G>C MANE Select | NP_060011.1:p.Arg52Thr |