Linked Data
ClinVar Variation Id:
2241857
ClinVar RCV Id:
RCV002747698
dbSNP Id:
rs761255700
ExAC:
1:5924068 C / G
gnomAD v2:
1-5924068-C-G
gnomAD v4:
1-5864008-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5864008C>G , CM000663.2:g.5864008C>G | GRCh38 |
| NC_000001.10:g.5924068C>G , CM000663.1:g.5924068C>G | GRCh37 |
| NC_000001.9:g.5846655C>G | NCBI36 |
| NG_011724.2:g.133464G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4022G>C MANE Select | ENSP00000367398.4:p.Gly1341Ala | |
| ENST00000378156.8:c.4022G>C | ENSP00000367398.4:p.Gly1341Ala | |
| ENST00000378161.5:n.3173G>C | ||
| ENST00000378169.7:c.*2923G>C | ENSP00000367411.3:n.*2923G>C | |
| ENST00000460696.1:n.2770G>C | ||
| ENST00000478423.6:n.3754G>C | ||
| ENST00000489180.6:c.*1833G>C | ENSP00000423747.1:n.*1833G>C | |
| NM_001291593.1:c.2483G>C | NP_001278522.1:p.Gly828Ala | |
| NM_001291594.1:c.2486G>C | NP_001278523.1:p.Gly829Ala | |
| NM_015102.4:c.4022G>C | NP_055917.1:p.Gly1341Ala | |
| NR_111987.1:n.4837G>C | ||
| XM_006710563.2:c.4022G>C | XP_006710626.1:p.Gly1341Ala | |
| XM_006710565.2:c.4022G>C | XP_006710628.1:p.Gly1341Ala | |
| XM_011541213.1:c.4019G>C | XP_011539515.1:p.Gly1340Ala | |
| XM_011541214.1:c.3980G>C | XP_011539516.1:p.Gly1327Ala | |
| XM_011541215.1:c.3911G>C | XP_011539517.1:p.Gly1304Ala | |
| XM_011541216.1:c.4022G>C | XP_011539518.1:p.Gly1341Ala | |
| XM_011541217.1:c.4022G>C | XP_011539519.1:p.Gly1341Ala | |
| XM_011541218.1:c.4022G>C | XP_011539520.1:p.Gly1341Ala | |
| XM_011541219.1:c.3968G>C | XP_011539521.1:p.Gly1323Ala | |
| XM_006710563.3:c.4022G>C | XP_006710626.1:p.Gly1341Ala | |
| XM_011541216.2:c.4022G>C | XP_011539518.1:p.Gly1341Ala | |
| XM_011541217.2:c.4022G>C | XP_011539519.1:p.Gly1341Ala | |
| XM_011541218.2:c.4022G>C | XP_011539520.1:p.Gly1341Ala | |
| XM_017000996.1:c.3977G>C | XP_016856485.1:p.Gly1326Ala | |
| XM_017000997.1:c.4022G>C | XP_016856486.1:p.Gly1341Ala | |
| XM_017000999.1:c.3494G>C | XP_016856488.1:p.Gly1165Ala | |
| XM_017001000.2:c.3494G>C | XP_016856489.1:p.Gly1165Ala | |
| XM_017001001.1:c.3224G>C | XP_016856490.1:p.Gly1075Ala | |
| XM_017001003.1:c.2483G>C | XP_016856492.1:p.Gly828Ala | |
| XR_001737114.1:n.3888G>C | ||
| XR_001737115.1:n.3873G>C | ||
| NM_015102.5:c.4022G>C MANE Select | NP_055917.1:p.Gly1341Ala | |
| NM_001291593.2:c.2483G>C | NP_001278522.1:p.Gly828Ala | |
| NM_001291594.2:c.2486G>C | NP_001278523.1:p.Gly829Ala | |
| NR_111987.2:n.4789G>C |