Linked Data
ClinVar Variation Id:
297811
dbSNP Id:
rs200848754
ExAC:
1:5964705 A / G
gnomAD v2:
1-5964705-A-G
gnomAD v3:
1-5904645-A-G
gnomAD v4:
1-5904645-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5904645A>G , CM000663.2:g.5904645A>G | GRCh38 |
| NC_000001.10:g.5964705A>G , CM000663.1:g.5964705A>G | GRCh37 |
| NC_000001.9:g.5887292A>G | NCBI36 |
| NG_011724.2:g.92827T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.2115T>C MANE Select | ENSP00000367398.4:p.Pro705= | |
| ENST00000378156.8:c.2115T>C | ENSP00000367398.4:p.Pro705= | |
| ENST00000378169.7:c.*1016T>C | ENSP00000367411.3:n.*1016T>C | |
| ENST00000466897.1:c.193T>C | ||
| ENST00000478423.6:n.1847T>C | ||
| ENST00000489180.6:c.2112T>C | ENSP00000423747.1:p.Pro704= | |
| ENST00000622020.4:c.2112T>C | ENSP00000481831.2:p.Pro704= | |
| NM_001291593.1:c.576T>C | NP_001278522.1:p.Pro192= | |
| NM_001291594.1:c.579T>C | NP_001278523.1:p.Pro193= | |
| NM_015102.4:c.2115T>C | NP_055917.1:p.Pro705= | |
| NR_111987.1:n.2380T>C | ||
| XM_006710563.2:c.2115T>C | XP_006710626.1:p.Pro705= | |
| XM_006710565.2:c.2115T>C | XP_006710628.1:p.Pro705= | |
| XM_011541213.1:c.2112T>C | XP_011539515.1:p.Pro704= | |
| XM_011541214.1:c.2115T>C | XP_011539516.1:p.Pro705= | |
| XM_011541215.1:c.2004T>C | XP_011539517.1:p.Pro668= | |
| XM_011541216.1:c.2115T>C | XP_011539518.1:p.Pro705= | |
| XM_011541217.1:c.2115T>C | XP_011539519.1:p.Pro705= | |
| XM_011541218.1:c.2115T>C | XP_011539520.1:p.Pro705= | |
| XM_011541219.1:c.2061T>C | XP_011539521.1:p.Pro687= | |
| XM_011541220.1:c.2115T>C | XP_011539522.1:p.Pro705= | |
| XR_946604.1:n.2153T>C | ||
| XR_946605.1:n.2153T>C | ||
| XM_006710563.3:c.2115T>C | XP_006710626.1:p.Pro705= | |
| XM_011541216.2:c.2115T>C | XP_011539518.1:p.Pro705= | |
| XM_011541217.2:c.2115T>C | XP_011539519.1:p.Pro705= | |
| XM_011541218.2:c.2115T>C | XP_011539520.1:p.Pro705= | |
| XM_017000996.1:c.2112T>C | XP_016856485.1:p.Pro704= | |
| XM_017000997.1:c.2115T>C | XP_016856486.1:p.Pro705= | |
| XM_017000998.1:c.2115T>C | XP_016856487.1:p.Pro705= | |
| XM_017000999.1:c.1587T>C | XP_016856488.1:p.Pro529= | |
| XM_017001000.2:c.1587T>C | XP_016856489.1:p.Pro529= | |
| XM_017001001.1:c.1317T>C | XP_016856490.1:p.Pro439= | |
| XM_017001002.1:c.2115T>C | XP_016856491.1:p.Pro705= | |
| XM_017001003.1:c.576T>C | XP_016856492.1:p.Pro192= | |
| XR_001737114.1:n.2153T>C | ||
| XR_001737115.1:n.2153T>C | ||
| NM_015102.5:c.2115T>C MANE Select | NP_055917.1:p.Pro705= | |
| NM_001291593.2:c.576T>C | NP_001278522.1:p.Pro192= | |
| NM_001291594.2:c.579T>C | NP_001278523.1:p.Pro193= | |
| NR_111987.2:n.2332T>C |