Linked Data
ClinVar Variation Id:
297831
dbSNP Id:
rs371432148
ExAC:
1:6038485 C / G
gnomAD v2:
1-6038485-C-G
gnomAD v3:
1-5978425-C-G
gnomAD v4:
1-5978425-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5978425C>G , CM000663.2:g.5978425C>G | GRCh38 |
| NC_000001.10:g.6038485C>G , CM000663.1:g.6038485C>G | GRCh37 |
| NC_000001.9:g.5961072C>G | NCBI36 |
| NG_011724.2:g.19047G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.136-12G>C MANE Select | ENSP00000367398.4:n.136-12G>C | |
| ENST00000378156.8:c.136-12G>C | ENSP00000367398.4:n.136-12G>C | |
| ENST00000378169.7:c.136-12G>C | ENSP00000367411.3:n.136-12G>C | |
| ENST00000478423.6:n.182-9166G>C | ||
| ENST00000489180.6:c.136-12G>C | ENSP00000423747.1:n.136-12G>C | |
| ENST00000622020.4:c.136-12G>C | ENSP00000481831.2:n.136-12G>C | |
| NM_001291593.1:c.-1094-12G>C | NP_001278522.1:n.-1094-12G>C | |
| NM_001291594.1:c.-1087-9166G>C | NP_001278523.1:n.-1087-9166G>C | |
| NM_015102.4:c.136-12G>C | NP_055917.1:n.136-12G>C | |
| NR_111987.1:n.404-12G>C | ||
| XM_006710563.2:c.136-12G>C | XP_006710626.1:n.136-12G>C | |
| XM_006710565.2:c.136-12G>C | XP_006710628.1:n.136-12G>C | |
| XM_011541213.1:c.136-12G>C | XP_011539515.1:n.136-12G>C | |
| XM_011541214.1:c.136-12G>C | XP_011539516.1:n.136-12G>C | |
| XM_011541215.1:c.136-12G>C | XP_011539517.1:n.136-12G>C | |
| XM_011541216.1:c.136-12G>C | XP_011539518.1:n.136-12G>C | |
| XM_011541217.1:c.136-12G>C | XP_011539519.1:n.136-12G>C | |
| XM_011541218.1:c.136-12G>C | XP_011539520.1:n.136-12G>C | |
| XM_011541219.1:c.82-12G>C | XP_011539521.1:n.82-12G>C | |
| XM_011541220.1:c.136-12G>C | XP_011539522.1:n.136-12G>C | |
| XR_946604.1:n.174-12G>C | ||
| XR_946605.1:n.174-12G>C | ||
| XM_006710563.3:c.136-12G>C | XP_006710626.1:n.136-12G>C | |
| XM_011541216.2:c.136-12G>C | XP_011539518.1:n.136-12G>C | |
| XM_011541217.2:c.136-12G>C | XP_011539519.1:n.136-12G>C | |
| XM_011541218.2:c.136-12G>C | XP_011539520.1:n.136-12G>C | |
| XM_017000996.1:c.136-12G>C | XP_016856485.1:n.136-12G>C | |
| XM_017000997.1:c.136-12G>C | XP_016856486.1:n.136-12G>C | |
| XM_017000998.1:c.136-12G>C | XP_016856487.1:n.136-12G>C | |
| XM_017000999.1:c.-393-12G>C | XP_016856488.1:n.-393-12G>C | |
| XM_017001002.1:c.136-12G>C | XP_016856491.1:n.136-12G>C | |
| XR_001737114.1:n.174-12G>C | ||
| XR_001737115.1:n.174-12G>C | ||
| NM_015102.5:c.136-12G>C MANE Select | NP_055917.1:n.136-12G>C | |
| NM_001291593.2:c.-1094-12G>C | NP_001278522.1:n.-1094-12G>C | |
| NM_001291594.2:c.-1087-9166G>C | NP_001278523.1:n.-1087-9166G>C | |
| NR_111987.2:n.356-12G>C |