Linked Data
ClinVar Variation Id:
2080227
ClinVar RCV Id:
RCV002999134
dbSNP Id:
rs967976579
gnomAD v2:
1-27876590-A-T
gnomAD v3:
1-27550079-A-T
gnomAD v4:
1-27550079-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27550079A>T , CM000663.2:g.27550079A>T | GRCh38 |
| NC_000001.10:g.27876590A>T , CM000663.1:g.27876590A>T | GRCh37 |
| NC_000001.9:g.27749177A>T | NCBI36 |
| NG_034158.1:g.58416T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247087.10:c.2037T>A | ENSP00000247087.4:p.Gly679= | |
| ENST00000642245.1:c.2037T>A | ENSP00000495072.1:p.Gly679= | |
| ENST00000642416.1:c.2037T>A | ENSP00000494394.1:p.Gly679= | |
| ENST00000644989.1:c.2037T>A | ENSP00000495665.1:p.Gly679= | |
| ENST00000673934.1:c.2037T>A MANE Select | ENSP00000501218.1:p.Gly679= | |
| ENST00000247087.9:c.2037T>A | ENSP00000247087.4:p.Gly679= | |
| ENST00000374011.6:c.2037T>A | ENSP00000363123.2:p.Gly679= | |
| NM_001029882.3:c.2037T>A | NP_001025053.1:p.Gly679= | |
| XM_005245848.2:c.2037T>A | XP_005245905.1:p.Gly679= | |
| XM_005245849.2:c.2037T>A | XP_005245906.1:p.Gly679= | |
| XM_005245850.2:c.2037T>A | XP_005245907.1:p.Gly679= | |
| XM_005245851.2:c.2037T>A | XP_005245908.1:p.Gly679= | |
| XM_005245852.2:c.2037T>A | XP_005245909.1:p.Gly679= | |
| XM_011541255.1:c.2037T>A | XP_011539557.1:p.Gly679= | |
| XM_011541256.1:c.2037T>A | XP_011539558.1:p.Gly679= | |
| XM_011541257.1:c.2037T>A | XP_011539559.1:p.Gly679= | |
| XR_946609.1:n.2994T>A | ||
| XM_005245848.3:c.2037T>A | XP_005245905.1:p.Gly679= | |
| XM_005245849.3:c.2037T>A | XP_005245906.1:p.Gly679= | |
| XM_005245850.3:c.2037T>A | XP_005245907.1:p.Gly679= | |
| XM_005245851.3:c.2037T>A | XP_005245908.1:p.Gly679= | |
| XM_005245852.3:c.2037T>A | XP_005245909.1:p.Gly679= | |
| XM_011541256.2:c.2037T>A | XP_011539558.1:p.Gly679= | |
| XM_011541257.2:c.2037T>A | XP_011539559.1:p.Gly679= | |
| XM_024446461.1:c.2037T>A | XP_024302229.1:p.Gly679= | |
| XR_946609.2:n.3104T>A | ||
| NM_001371928.1:c.2037T>A MANE Select | NP_001358857.1:p.Gly679= |