Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988850A>G , CM000672.2:g.94988850A>G | GRCh38 |
| NC_000010.10:g.96748607A>G , CM000672.1:g.96748607A>G | GRCh37 |
| NC_000010.9:g.96738597A>G | NCBI36 |
| NG_008385.1:g.55193A>G | |
| NG_008385.2:g.55693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1295A>G MANE Select | ENSP00000260682.6:p.Lys432Arg | |
| ENST00000643112.1:c.*304A>G | ENSP00000496202.1:n.*304A>G | |
| ENST00000260682.6:c.1295A>G | ENSP00000260682.6:p.Lys432Arg | |
| NM_000771.3:c.1295A>G | NP_000762.2:p.Lys432Arg | |
| NM_000771.4:c.1295A>G MANE Select | NP_000762.2:p.Lys432Arg |