Linked Data
ClinVar Variation Id:
501521
dbSNP Id:
rs188869698
ExAC:
1:5927912 G / A
gnomAD v2:
1-5927912-G-A
gnomAD v3:
1-5867852-G-A
gnomAD v4:
1-5867852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5867852G>A , CM000663.2:g.5867852G>A | GRCh38 |
| NC_000001.10:g.5927912G>A , CM000663.1:g.5927912G>A | GRCh37 |
| NC_000001.9:g.5850499G>A | NCBI36 |
| NG_011724.2:g.129620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3360C>T MANE Select | ENSP00000367398.4:p.Cys1120= | |
| ENST00000378156.8:c.3360C>T | ENSP00000367398.4:p.Cys1120= | |
| ENST00000378161.5:n.524C>T | ||
| ENST00000378169.7:c.*2261C>T | ENSP00000367411.3:n.*2261C>T | |
| ENST00000468253.1:n.635C>T | ||
| ENST00000478423.6:n.3092C>T | ||
| ENST00000489180.6:c.*1171C>T | ENSP00000423747.1:n.*1171C>T | |
| NM_001291593.1:c.1821C>T | NP_001278522.1:p.Cys607= | |
| NM_001291594.1:c.1824C>T | NP_001278523.1:p.Cys608= | |
| NM_015102.4:c.3360C>T | NP_055917.1:p.Cys1120= | |
| NR_111987.1:n.4175C>T | ||
| XM_006710563.2:c.3360C>T | XP_006710626.1:p.Cys1120= | |
| XM_006710565.2:c.3360C>T | XP_006710628.1:p.Cys1120= | |
| XM_011541213.1:c.3357C>T | XP_011539515.1:p.Cys1119= | |
| XM_011541214.1:c.3318C>T | XP_011539516.1:p.Cys1106= | |
| XM_011541215.1:c.3249C>T | XP_011539517.1:p.Cys1083= | |
| XM_011541216.1:c.3360C>T | XP_011539518.1:p.Cys1120= | |
| XM_011541217.1:c.3360C>T | XP_011539519.1:p.Cys1120= | |
| XM_011541218.1:c.3360C>T | XP_011539520.1:p.Cys1120= | |
| XM_011541219.1:c.3306C>T | XP_011539521.1:p.Cys1102= | |
| XM_011541220.1:c.3360C>T | XP_011539522.1:p.Cys1120= | |
| XR_946604.1:n.3211C>T | ||
| XM_006710563.3:c.3360C>T | XP_006710626.1:p.Cys1120= | |
| XM_011541216.2:c.3360C>T | XP_011539518.1:p.Cys1120= | |
| XM_011541217.2:c.3360C>T | XP_011539519.1:p.Cys1120= | |
| XM_011541218.2:c.3360C>T | XP_011539520.1:p.Cys1120= | |
| XM_017000996.1:c.3315C>T | XP_016856485.1:p.Cys1105= | |
| XM_017000997.1:c.3360C>T | XP_016856486.1:p.Cys1120= | |
| XM_017000998.1:c.3360C>T | XP_016856487.1:p.Cys1120= | |
| XM_017000999.1:c.2832C>T | XP_016856488.1:p.Cys944= | |
| XM_017001000.2:c.2832C>T | XP_016856489.1:p.Cys944= | |
| XM_017001001.1:c.2562C>T | XP_016856490.1:p.Cys854= | |
| XM_017001003.1:c.1821C>T | XP_016856492.1:p.Cys607= | |
| XR_001737114.1:n.3398C>T | ||
| XR_001737115.1:n.3211C>T | ||
| NM_015102.5:c.3360C>T MANE Select | NP_055917.1:p.Cys1120= | |
| NM_001291593.2:c.1821C>T | NP_001278522.1:p.Cys607= | |
| NM_001291594.2:c.1824C>T | NP_001278523.1:p.Cys608= | |
| NR_111987.2:n.4127C>T |