Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778604A>G , CM000682.2:g.6778604A>G | GRCh38 |
| NC_000020.10:g.6759251A>G , CM000682.1:g.6759251A>G | GRCh37 |
| NC_000020.9:g.6707251A>G | NCBI36 |
| NG_023233.1:g.15507A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.706A>G MANE Select | ENSP00000368104.3:p.Lys236Glu | |
| ENST00000378827.4:c.706A>G | ENSP00000368104.3:p.Lys236Glu | |
| NM_001200.2:c.706A>G | NP_001191.1:p.Lys236Glu | |
| XM_011529323.1:c.238A>G | XP_011527625.1:p.Lys80Glu | |
| NM_001200.3:c.706A>G | NP_001191.1:p.Lys236Glu | |
| NM_001200.4:c.706A>G MANE Select | NP_001191.1:p.Lys236Glu |