ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42068825G>C , CM000677.2:g.42068825G>C | GRCh38 |
| NC_000015.9:g.42361023G>C , CM000677.1:g.42361023G>C | GRCh37 |
| NC_000015.8:g.40148315G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.2347C>G MANE Select | ENSP00000290472.3:p.Arg783Gly | |
| ENST00000290472.3:c.2347C>G | ENSP00000290472.3:p.Arg783Gly | |
| ENST00000560932.1:n.1500C>G | ||
| NM_178034.3:c.2347C>G | NP_828848.3:p.Arg783Gly | |
| XM_011521467.1:c.2179C>G | XP_011519769.1:p.Arg727Gly | |
| XM_011521467.2:c.2179C>G | XP_011519769.1:p.Arg727Gly | |
| XR_931798.2:n.2570C>G | ||
| NM_178034.4:c.2347C>G MANE Select | NP_828848.3:p.Arg783Gly |