Linked Data
ClinVar Variation Id:
498757
dbSNP Id:
rs141538649
ExAC:
1:6021933 C / G
gnomAD v2:
1-6021933-C-G
gnomAD v3:
1-5961873-C-G
gnomAD v4:
1-5961873-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5961873C>G , CM000663.2:g.5961873C>G | GRCh38 |
| NC_000001.10:g.6021933C>G , CM000663.1:g.6021933C>G | GRCh37 |
| NC_000001.9:g.5944520C>G | NCBI36 |
| NG_011724.2:g.35599G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.594G>C MANE Select | ENSP00000367398.4:p.Ala198= | |
| ENST00000378156.8:c.594G>C | ENSP00000367398.4:p.Ala198= | |
| ENST00000378169.7:c.594G>C | ENSP00000367411.3:p.Ala198= | |
| ENST00000478423.6:n.496G>C | ||
| ENST00000489180.6:c.594G>C | ENSP00000423747.1:p.Ala198= | |
| ENST00000622020.4:c.594G>C | ENSP00000481831.2:p.Ala198= | |
| NM_001291593.1:c.-636G>C | NP_001278522.1:n.-636G>C | |
| NM_001291594.1:c.-773G>C | NP_001278523.1:n.-773G>C | |
| NM_015102.4:c.594G>C | NP_055917.1:p.Ala198= | |
| NR_111987.1:n.862G>C | ||
| XM_006710563.2:c.594G>C | XP_006710626.1:p.Ala198= | |
| XM_006710565.2:c.594G>C | XP_006710628.1:p.Ala198= | |
| XM_011541213.1:c.594G>C | XP_011539515.1:p.Ala198= | |
| XM_011541214.1:c.594G>C | XP_011539516.1:p.Ala198= | |
| XM_011541215.1:c.594G>C | XP_011539517.1:p.Ala198= | |
| XM_011541216.1:c.594G>C | XP_011539518.1:p.Ala198= | |
| XM_011541217.1:c.594G>C | XP_011539519.1:p.Ala198= | |
| XM_011541218.1:c.594G>C | XP_011539520.1:p.Ala198= | |
| XM_011541219.1:c.540G>C | XP_011539521.1:p.Ala180= | |
| XM_011541220.1:c.594G>C | XP_011539522.1:p.Ala198= | |
| XR_946604.1:n.632G>C | ||
| XR_946605.1:n.632G>C | ||
| XM_006710563.3:c.594G>C | XP_006710626.1:p.Ala198= | |
| XM_011541216.2:c.594G>C | XP_011539518.1:p.Ala198= | |
| XM_011541217.2:c.594G>C | XP_011539519.1:p.Ala198= | |
| XM_011541218.2:c.594G>C | XP_011539520.1:p.Ala198= | |
| XM_017000996.1:c.594G>C | XP_016856485.1:p.Ala198= | |
| XM_017000997.1:c.594G>C | XP_016856486.1:p.Ala198= | |
| XM_017000998.1:c.594G>C | XP_016856487.1:p.Ala198= | |
| XM_017000999.1:c.66G>C | XP_016856488.1:p.Ala22= | |
| XM_017001000.2:c.66G>C | XP_016856489.1:p.Ala22= | |
| XM_017001001.1:c.-68G>C | XP_016856490.1:n.-68G>C | |
| XM_017001002.1:c.594G>C | XP_016856491.1:p.Ala198= | |
| XR_001737114.1:n.632G>C | ||
| XR_001737115.1:n.632G>C | ||
| NM_015102.5:c.594G>C MANE Select | NP_055917.1:p.Ala198= | |
| NM_001291593.2:c.-636G>C | NP_001278522.1:n.-636G>C | |
| NM_001291594.2:c.-773G>C | NP_001278523.1:n.-773G>C | |
| NR_111987.2:n.814G>C |