Linked Data
ClinVar Variation Id:
297793
dbSNP Id:
rs374003717
ExAC:
1:5926465 C / T
gnomAD v2:
1-5926465-C-T
gnomAD v3:
1-5866405-C-T
gnomAD v4:
1-5866405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5866405C>T , CM000663.2:g.5866405C>T | GRCh38 |
| NC_000001.10:g.5926465C>T , CM000663.1:g.5926465C>T | GRCh37 |
| NC_000001.9:g.5849052C>T | NCBI36 |
| NG_011724.2:g.131067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3612G>A MANE Select | ENSP00000367398.4:p.Pro1204= | |
| ENST00000378156.8:c.3612G>A | ENSP00000367398.4:p.Pro1204= | |
| ENST00000378161.5:n.776G>A | ||
| ENST00000378169.7:c.*2513G>A | ENSP00000367411.3:n.*2513G>A | |
| ENST00000460696.1:n.677G>A | ||
| ENST00000478423.6:n.3344G>A | ||
| ENST00000489180.6:c.*1423G>A | ENSP00000423747.1:n.*1423G>A | |
| NM_001291593.1:c.2073G>A | NP_001278522.1:p.Pro691= | |
| NM_001291594.1:c.2076G>A | NP_001278523.1:p.Pro692= | |
| NM_015102.4:c.3612G>A | NP_055917.1:p.Pro1204= | |
| NR_111987.1:n.4427G>A | ||
| XM_006710563.2:c.3612G>A | XP_006710626.1:p.Pro1204= | |
| XM_006710565.2:c.3612G>A | XP_006710628.1:p.Pro1204= | |
| XM_011541213.1:c.3609G>A | XP_011539515.1:p.Pro1203= | |
| XM_011541214.1:c.3570G>A | XP_011539516.1:p.Pro1190= | |
| XM_011541215.1:c.3501G>A | XP_011539517.1:p.Pro1167= | |
| XM_011541216.1:c.3612G>A | XP_011539518.1:p.Pro1204= | |
| XM_011541217.1:c.3612G>A | XP_011539519.1:p.Pro1204= | |
| XM_011541218.1:c.3612G>A | XP_011539520.1:p.Pro1204= | |
| XM_011541219.1:c.3558G>A | XP_011539521.1:p.Pro1186= | |
| XM_011541220.1:c.3612G>A | XP_011539522.1:p.Pro1204= | |
| XM_006710563.3:c.3612G>A | XP_006710626.1:p.Pro1204= | |
| XM_011541216.2:c.3612G>A | XP_011539518.1:p.Pro1204= | |
| XM_011541217.2:c.3612G>A | XP_011539519.1:p.Pro1204= | |
| XM_011541218.2:c.3612G>A | XP_011539520.1:p.Pro1204= | |
| XM_017000996.1:c.3567G>A | XP_016856485.1:p.Pro1189= | |
| XM_017000997.1:c.3612G>A | XP_016856486.1:p.Pro1204= | |
| XM_017000998.1:c.3612G>A | XP_016856487.1:p.Pro1204= | |
| XM_017000999.1:c.3084G>A | XP_016856488.1:p.Pro1028= | |
| XM_017001000.2:c.3084G>A | XP_016856489.1:p.Pro1028= | |
| XM_017001001.1:c.2814G>A | XP_016856490.1:p.Pro938= | |
| XM_017001003.1:c.2073G>A | XP_016856492.1:p.Pro691= | |
| XR_001737114.1:n.3650G>A | ||
| XR_001737115.1:n.3463G>A | ||
| NM_015102.5:c.3612G>A MANE Select | NP_055917.1:p.Pro1204= | |
| NM_001291593.2:c.2073G>A | NP_001278522.1:p.Pro691= | |
| NM_001291594.2:c.2076G>A | NP_001278523.1:p.Pro692= | |
| NR_111987.2:n.4379G>A |