Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786245T>C , CM000681.2:g.18786245T>C | GRCh38 |
| NC_000019.9:g.18897055T>C , CM000681.1:g.18897055T>C | GRCh37 |
| NC_000019.8:g.18758055T>C | NCBI36 |
| NG_007070.1:g.10060A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1301A>G MANE Select | ENSP00000222271.2:p.Gln434Arg | |
| ENST00000222271.6:c.1301A>G | ENSP00000222271.2:p.Gln434Arg | |
| ENST00000425807.1:c.1142A>G | ENSP00000403792.1:p.Gln381Arg | |
| ENST00000542601.6:c.1202A>G | ENSP00000439156.2:p.Gln401Arg | |
| ENST00000612179.1:n.551A>G | ||
| NM_000095.2:c.1301A>G | NP_000086.2:p.Gln434Arg | |
| NM_000095.3:c.1301A>G MANE Select | NP_000086.2:p.Gln434Arg |