Linked Data
ClinVar Variation Id:
501949
dbSNP Id:
rs199856317
ExAC:
1:6038324 G / A
gnomAD v2:
1-6038324-G-A
gnomAD v3:
1-5978264-G-A
gnomAD v4:
1-5978264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5978264G>A , CM000663.2:g.5978264G>A | GRCh38 |
| NC_000001.10:g.6038324G>A , CM000663.1:g.6038324G>A | GRCh37 |
| NC_000001.9:g.5960911G>A | NCBI36 |
| NG_011724.2:g.19208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.279+6C>T MANE Select | ENSP00000367398.4:n.279+6C>T | |
| ENST00000378156.8:c.279+6C>T | ENSP00000367398.4:n.279+6C>T | |
| ENST00000378169.7:c.279+6C>T | ENSP00000367411.3:n.279+6C>T | |
| ENST00000478423.6:n.182-9005C>T | ||
| ENST00000489180.6:c.279+6C>T | ENSP00000423747.1:n.279+6C>T | |
| ENST00000622020.4:c.279+6C>T | ENSP00000481831.2:n.279+6C>T | |
| NM_001291593.1:c.-951+6C>T | NP_001278522.1:n.-951+6C>T | |
| NM_001291594.1:c.-1087-9005C>T | NP_001278523.1:n.-1087-9005C>T | |
| NM_015102.4:c.279+6C>T | NP_055917.1:n.279+6C>T | |
| NR_111987.1:n.547+6C>T | ||
| XM_006710563.2:c.279+6C>T | XP_006710626.1:n.279+6C>T | |
| XM_006710565.2:c.279+6C>T | XP_006710628.1:n.279+6C>T | |
| XM_011541213.1:c.279+6C>T | XP_011539515.1:n.279+6C>T | |
| XM_011541214.1:c.279+6C>T | XP_011539516.1:n.279+6C>T | |
| XM_011541215.1:c.279+6C>T | XP_011539517.1:n.279+6C>T | |
| XM_011541216.1:c.279+6C>T | XP_011539518.1:n.279+6C>T | |
| XM_011541217.1:c.279+6C>T | XP_011539519.1:n.279+6C>T | |
| XM_011541218.1:c.279+6C>T | XP_011539520.1:n.279+6C>T | |
| XM_011541219.1:c.225+6C>T | XP_011539521.1:n.225+6C>T | |
| XM_011541220.1:c.279+6C>T | XP_011539522.1:n.279+6C>T | |
| XR_946604.1:n.317+6C>T | ||
| XR_946605.1:n.317+6C>T | ||
| XM_006710563.3:c.279+6C>T | XP_006710626.1:n.279+6C>T | |
| XM_011541216.2:c.279+6C>T | XP_011539518.1:n.279+6C>T | |
| XM_011541217.2:c.279+6C>T | XP_011539519.1:n.279+6C>T | |
| XM_011541218.2:c.279+6C>T | XP_011539520.1:n.279+6C>T | |
| XM_017000996.1:c.279+6C>T | XP_016856485.1:n.279+6C>T | |
| XM_017000997.1:c.279+6C>T | XP_016856486.1:n.279+6C>T | |
| XM_017000998.1:c.279+6C>T | XP_016856487.1:n.279+6C>T | |
| XM_017000999.1:c.-250+6C>T | XP_016856488.1:n.-250+6C>T | |
| XM_017001000.2:c.-307+6C>T | XP_016856489.1:n.-307+6C>T | |
| XM_017001002.1:c.279+6C>T | XP_016856491.1:n.279+6C>T | |
| XR_001737114.1:n.317+6C>T | ||
| XR_001737115.1:n.317+6C>T | ||
| NM_015102.5:c.279+6C>T MANE Select | NP_055917.1:n.279+6C>T | |
| NM_001291593.2:c.-951+6C>T | NP_001278522.1:n.-951+6C>T | |
| NM_001291594.2:c.-1087-9005C>T | NP_001278523.1:n.-1087-9005C>T | |
| NR_111987.2:n.499+6C>T |