Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48528288A>G , CM000685.2:g.48528288A>G | GRCh38 |
| NC_000023.10:g.48386676A>G , CM000685.1:g.48386676A>G | GRCh37 |
| NC_000023.9:g.48271620A>G | NCBI36 |
| NG_007452.1:g.11513A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495186.6:c.524A>G MANE Select | ENSP00000417052.1:p.Gln175Arg | |
| ENST00000651615.1:c.469+1003A>G | ENSP00000498524.1:n.469+1003A>G | |
| ENST00000276096.10:n.482A>G | ||
| ENST00000495186.5:c.524A>G | ENSP00000417052.1:p.Gln175Arg | |
| ENST00000498425.1:n.645A>G | ||
| NM_006579.2:c.524A>G | NP_006570.1:p.Gln175Arg | |
| NM_006579.3:c.524A>G MANE Select | NP_006570.1:p.Gln175Arg |