Linked Data
ClinVar Variation Id:
2968472
ClinVar RCV Id:
RCV003821598
dbSNP Id:
rs776637247
ExAC:
1:27875956 G / A
gnomAD v2:
1-27875956-G-A
gnomAD v3:
1-27549445-G-A
gnomAD v4:
1-27549445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27549445G>A , CM000663.2:g.27549445G>A | GRCh38 |
| NC_000001.10:g.27875956G>A , CM000663.1:g.27875956G>A | GRCh37 |
| NC_000001.9:g.27748543G>A | NCBI36 |
| NG_034158.1:g.59050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247087.10:c.2671C>T | ENSP00000247087.4:p.Arg891Trp | |
| ENST00000642245.1:c.2671C>T | ENSP00000495072.1:p.Arg891Trp | |
| ENST00000642416.1:c.2671C>T | ENSP00000494394.1:p.Arg891Trp | |
| ENST00000644989.1:c.2671C>T | ENSP00000495665.1:p.Arg891Trp | |
| ENST00000673934.1:c.2671C>T MANE Select | ENSP00000501218.1:p.Arg891Trp | |
| ENST00000247087.9:c.2671C>T | ENSP00000247087.4:p.Arg891Trp | |
| ENST00000374011.6:c.2671C>T | ENSP00000363123.2:p.Arg891Trp | |
| NM_001029882.3:c.2671C>T | NP_001025053.1:p.Arg891Trp | |
| XM_005245848.2:c.2671C>T | XP_005245905.1:p.Arg891Trp | |
| XM_005245849.2:c.2671C>T | XP_005245906.1:p.Arg891Trp | |
| XM_005245850.2:c.2671C>T | XP_005245907.1:p.Arg891Trp | |
| XM_005245851.2:c.2671C>T | XP_005245908.1:p.Arg891Trp | |
| XM_005245852.2:c.2671C>T | XP_005245909.1:p.Arg891Trp | |
| XM_011541255.1:c.2671C>T | XP_011539557.1:p.Arg891Trp | |
| XM_011541256.1:c.2671C>T | XP_011539558.1:p.Arg891Trp | |
| XM_011541257.1:c.2671C>T | XP_011539559.1:p.Arg891Trp | |
| XR_946609.1:n.3628C>T | ||
| XM_005245848.3:c.2671C>T | XP_005245905.1:p.Arg891Trp | |
| XM_005245849.3:c.2671C>T | XP_005245906.1:p.Arg891Trp | |
| XM_005245850.3:c.2671C>T | XP_005245907.1:p.Arg891Trp | |
| XM_005245851.3:c.2671C>T | XP_005245908.1:p.Arg891Trp | |
| XM_005245852.3:c.2671C>T | XP_005245909.1:p.Arg891Trp | |
| XM_011541256.2:c.2671C>T | XP_011539558.1:p.Arg891Trp | |
| XM_011541257.2:c.2671C>T | XP_011539559.1:p.Arg891Trp | |
| XM_024446461.1:c.2671C>T | XP_024302229.1:p.Arg891Trp | |
| XR_946609.2:n.3738C>T | ||
| NM_001371928.1:c.2671C>T MANE Select | NP_001358857.1:p.Arg891Trp |