Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485247A>G , CM000668.2:g.143485247A>G | GRCh38 |
| NC_000006.11:g.143806384A>G , CM000668.1:g.143806384A>G | GRCh37 |
| NC_000006.10:g.143848077A>G | NCBI36 |
| NG_008459.1:g.39467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1037A>G MANE Select | ENSP00000356563.4:p.Gln346Arg | |
| ENST00000367591.4:c.1037A>G | ENSP00000356563.4:p.Gln346Arg | |
| ENST00000585848.1:n.176A>G | ||
| NM_003630.2:c.1037A>G | NP_003621.1:p.Gln346Arg | |
| NM_003630.3:c.1037A>G MANE Select | NP_003621.1:p.Gln346Arg |