Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941884C>G , CM000672.2:g.94941884C>G | GRCh38 |
| NC_000010.10:g.96701641C>G , CM000672.1:g.96701641C>G | GRCh37 |
| NC_000010.9:g.96691631C>G | NCBI36 |
| NG_008385.1:g.8227C>G | |
| NG_008385.2:g.8727C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.195C>G MANE Select | ENSP00000260682.6:p.Phe65Leu | |
| ENST00000643112.1:c.195C>G | ENSP00000496202.1:p.Phe65Leu | |
| ENST00000645207.1:n.348C>G | ||
| ENST00000260682.6:c.195C>G | ENSP00000260682.6:p.Phe65Leu | |
| ENST00000461906.1:n.220C>G | ||
| NM_000771.3:c.195C>G | NP_000762.2:p.Phe65Leu | |
| NM_000771.4:c.195C>G MANE Select | NP_000762.2:p.Phe65Leu |