ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40390141C>A , CM000679.2:g.40390141C>A | GRCh38 |
| NC_000017.10:g.38546393C>A , CM000679.1:g.38546393C>A | GRCh37 |
| NC_000017.9:g.35799919C>A | NCBI36 |
| NG_027678.1:g.32810G>T | |
| NG_027678.2:g.32810G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423485.6:c.4291G>T MANE Select | ENSP00000411532.1:p.Gly1431Cys | |
| ENST00000423485.5:c.4291G>T | ENSP00000411532.1:p.Gly1431Cys | |
| ENST00000578412.1:n.620G>T | ||
| NM_001067.3:c.4291G>T | NP_001058.2:p.Gly1431Cys | |
| XM_005257632.1:c.4255G>T | XP_005257689.1:p.Gly1419Cys | |
| NM_001067.4:c.4291G>T MANE Select | NP_001058.2:p.Gly1431Cys |