ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40395481T>C , CM000679.2:g.40395481T>C | GRCh38 |
| NC_000017.10:g.38551733T>C , CM000679.1:g.38551733T>C | GRCh37 |
| NC_000017.9:g.35805259T>C | NCBI36 |
| NG_027678.1:g.27470A>G | |
| NG_027678.2:g.27470A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423485.6:c.3779A>G MANE Select | ENSP00000411532.1:p.Gln1260Arg | |
| ENST00000423485.5:c.3779A>G | ENSP00000411532.1:p.Gln1260Arg | |
| NM_001067.3:c.3779A>G | NP_001058.2:p.Gln1260Arg | |
| XM_005257632.1:c.3743A>G | XP_005257689.1:p.Gln1248Arg | |
| XM_011525165.1:c.3779A>G | XP_011523467.1:p.Gln1260Arg | |
| XM_011525165.2:c.3779A>G | XP_011523467.1:p.Gln1260Arg | |
| NM_001067.4:c.3779A>G MANE Select | NP_001058.2:p.Gln1260Arg |