Linked Data
ClinVar Variation Id:
297788
dbSNP Id:
rs560944258
ExAC:
1:5925220 C / T
gnomAD v2:
1-5925220-C-T
gnomAD v3:
1-5865160-C-T
gnomAD v4:
1-5865160-C-T
COSMIC:
COSM4577474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5865160C>T , CM000663.2:g.5865160C>T | GRCh38 |
| NC_000001.10:g.5925220C>T , CM000663.1:g.5925220C>T | GRCh37 |
| NC_000001.9:g.5847807C>T | NCBI36 |
| NG_011724.2:g.132312G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3758G>A MANE Select | ENSP00000367398.4:p.Arg1253Gln | |
| ENST00000378156.8:c.3758G>A | ENSP00000367398.4:p.Arg1253Gln | |
| ENST00000378161.5:n.2021G>A | ||
| ENST00000378169.7:c.*2659G>A | ENSP00000367411.3:n.*2659G>A | |
| ENST00000460696.1:n.1922G>A | ||
| ENST00000478423.6:n.3490G>A | ||
| ENST00000489180.6:c.*1569G>A | ENSP00000423747.1:n.*1569G>A | |
| NM_001291593.1:c.2219G>A | NP_001278522.1:p.Arg740Gln | |
| NM_001291594.1:c.2222G>A | NP_001278523.1:p.Arg741Gln | |
| NM_015102.4:c.3758G>A | NP_055917.1:p.Arg1253Gln | |
| NR_111987.1:n.4573G>A | ||
| XM_006710563.2:c.3758G>A | XP_006710626.1:p.Arg1253Gln | |
| XM_006710565.2:c.3758G>A | XP_006710628.1:p.Arg1253Gln | |
| XM_011541213.1:c.3755G>A | XP_011539515.1:p.Arg1252Gln | |
| XM_011541214.1:c.3716G>A | XP_011539516.1:p.Arg1239Gln | |
| XM_011541215.1:c.3647G>A | XP_011539517.1:p.Arg1216Gln | |
| XM_011541216.1:c.3758G>A | XP_011539518.1:p.Arg1253Gln | |
| XM_011541217.1:c.3758G>A | XP_011539519.1:p.Arg1253Gln | |
| XM_011541218.1:c.3758G>A | XP_011539520.1:p.Arg1253Gln | |
| XM_011541219.1:c.3704G>A | XP_011539521.1:p.Arg1235Gln | |
| XM_011541220.1:c.3645-643G>A | XP_011539522.1:n.3645-643G>A | |
| XM_006710563.3:c.3758G>A | XP_006710626.1:p.Arg1253Gln | |
| XM_011541216.2:c.3758G>A | XP_011539518.1:p.Arg1253Gln | |
| XM_011541217.2:c.3758G>A | XP_011539519.1:p.Arg1253Gln | |
| XM_011541218.2:c.3758G>A | XP_011539520.1:p.Arg1253Gln | |
| XM_017000996.1:c.3713G>A | XP_016856485.1:p.Arg1238Gln | |
| XM_017000997.1:c.3758G>A | XP_016856486.1:p.Arg1253Gln | |
| XM_017000998.1:c.3645-50G>A | XP_016856487.1:n.3645-50G>A | |
| XM_017000999.1:c.3230G>A | XP_016856488.1:p.Arg1077Gln | |
| XM_017001000.2:c.3230G>A | XP_016856489.1:p.Arg1077Gln | |
| XM_017001001.1:c.2960G>A | XP_016856490.1:p.Arg987Gln | |
| XM_017001003.1:c.2219G>A | XP_016856492.1:p.Arg740Gln | |
| XR_001737114.1:n.3683-643G>A | ||
| XR_001737115.1:n.3609G>A | ||
| NM_015102.5:c.3758G>A MANE Select | NP_055917.1:p.Arg1253Gln | |
| NM_001291593.2:c.2219G>A | NP_001278522.1:p.Arg740Gln | |
| NM_001291594.2:c.2222G>A | NP_001278523.1:p.Arg741Gln | |
| NR_111987.2:n.4525G>A |