Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189003045G>A , CM000664.2:g.189003045G>A | GRCh38 |
| NC_000002.11:g.189867771G>A , CM000664.1:g.189867771G>A | GRCh37 |
| NC_000002.10:g.189576016G>A | NCBI36 |
| NG_007404.1:g.33673G>A , LRG_3:g.33673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2437G>A | ENSP00000415346.2:p.Gly813Arg | |
| ENST00000304636.9:c.2536G>A MANE Select | ENSP00000304408.4:p.Gly846Arg | |
| ENST00000304636.7:c.2536G>A | ENSP00000304408.3:p.Gly846Arg | |
| ENST00000317840.9:c.2527+9G>A | ENSP00000315243.6:n.2527+9G>A | |
| NM_000090.3:c.2536G>A , LRG_3t1:c.2536G>A | NP_000081.1:p.Gly846Arg | |
| NM_000090.4:c.2536G>A MANE Select | NP_000081.2:p.Gly846Arg |