Linked Data
ClinVar Variation Id:
498957
dbSNP Id:
rs373955397
ExAC:
1:5927168 C / T
gnomAD v2:
1-5927168-C-T
gnomAD v3:
1-5867108-C-T
gnomAD v4:
1-5867108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5867108C>T , CM000663.2:g.5867108C>T | GRCh38 |
| NC_000001.10:g.5927168C>T , CM000663.1:g.5927168C>T | GRCh37 |
| NC_000001.9:g.5849755C>T | NCBI36 |
| NG_011724.2:g.130364G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3480G>A MANE Select | ENSP00000367398.4:p.Pro1160= | |
| ENST00000378156.8:c.3480G>A | ENSP00000367398.4:p.Pro1160= | |
| ENST00000378161.5:n.644G>A | ||
| ENST00000378169.7:c.*2381G>A | ENSP00000367411.3:n.*2381G>A | |
| ENST00000460696.1:n.545G>A | ||
| ENST00000468253.1:n.755G>A | ||
| ENST00000478423.6:n.3212G>A | ||
| ENST00000489180.6:c.*1291G>A | ENSP00000423747.1:n.*1291G>A | |
| NM_001291593.1:c.1941G>A | NP_001278522.1:p.Pro647= | |
| NM_001291594.1:c.1944G>A | NP_001278523.1:p.Pro648= | |
| NM_015102.4:c.3480G>A | NP_055917.1:p.Pro1160= | |
| NR_111987.1:n.4295G>A | ||
| XM_006710563.2:c.3480G>A | XP_006710626.1:p.Pro1160= | |
| XM_006710565.2:c.3480G>A | XP_006710628.1:p.Pro1160= | |
| XM_011541213.1:c.3477G>A | XP_011539515.1:p.Pro1159= | |
| XM_011541214.1:c.3438G>A | XP_011539516.1:p.Pro1146= | |
| XM_011541215.1:c.3369G>A | XP_011539517.1:p.Pro1123= | |
| XM_011541216.1:c.3480G>A | XP_011539518.1:p.Pro1160= | |
| XM_011541217.1:c.3480G>A | XP_011539519.1:p.Pro1160= | |
| XM_011541218.1:c.3480G>A | XP_011539520.1:p.Pro1160= | |
| XM_011541219.1:c.3426G>A | XP_011539521.1:p.Pro1142= | |
| XM_011541220.1:c.3480G>A | XP_011539522.1:p.Pro1160= | |
| XR_946604.1:n.3331G>A | ||
| XM_006710563.3:c.3480G>A | XP_006710626.1:p.Pro1160= | |
| XM_011541216.2:c.3480G>A | XP_011539518.1:p.Pro1160= | |
| XM_011541217.2:c.3480G>A | XP_011539519.1:p.Pro1160= | |
| XM_011541218.2:c.3480G>A | XP_011539520.1:p.Pro1160= | |
| XM_017000996.1:c.3435G>A | XP_016856485.1:p.Pro1145= | |
| XM_017000997.1:c.3480G>A | XP_016856486.1:p.Pro1160= | |
| XM_017000998.1:c.3480G>A | XP_016856487.1:p.Pro1160= | |
| XM_017000999.1:c.2952G>A | XP_016856488.1:p.Pro984= | |
| XM_017001000.2:c.2952G>A | XP_016856489.1:p.Pro984= | |
| XM_017001001.1:c.2682G>A | XP_016856490.1:p.Pro894= | |
| XM_017001003.1:c.1941G>A | XP_016856492.1:p.Pro647= | |
| XR_001737114.1:n.3518G>A | ||
| XR_001737115.1:n.3331G>A | ||
| NM_015102.5:c.3480G>A MANE Select | NP_055917.1:p.Pro1160= | |
| NM_001291593.2:c.1941G>A | NP_001278522.1:p.Pro647= | |
| NM_001291594.2:c.1944G>A | NP_001278523.1:p.Pro648= | |
| NR_111987.2:n.4247G>A |