Linked Data
ClinVar Variation Id:
1016708
ClinVar RCV Id:
RCV001315751
dbSNP Id:
rs201560526
ExAC:
1:5924071 G / A
gnomAD v2:
1-5924071-G-A
gnomAD v3:
1-5864011-G-A
gnomAD v4:
1-5864011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5864011G>A , CM000663.2:g.5864011G>A | GRCh38 |
| NC_000001.10:g.5924071G>A , CM000663.1:g.5924071G>A | GRCh37 |
| NC_000001.9:g.5846658G>A | NCBI36 |
| NG_011724.2:g.133461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4019C>T MANE Select | ENSP00000367398.4:p.Ala1340Val | |
| ENST00000378156.8:c.4019C>T | ENSP00000367398.4:p.Ala1340Val | |
| ENST00000378161.5:n.3170C>T | ||
| ENST00000378169.7:c.*2920C>T | ENSP00000367411.3:n.*2920C>T | |
| ENST00000460696.1:n.2767C>T | ||
| ENST00000478423.6:n.3751C>T | ||
| ENST00000489180.6:c.*1830C>T | ENSP00000423747.1:n.*1830C>T | |
| NM_001291593.1:c.2480C>T | NP_001278522.1:p.Ala827Val | |
| NM_001291594.1:c.2483C>T | NP_001278523.1:p.Ala828Val | |
| NM_015102.4:c.4019C>T | NP_055917.1:p.Ala1340Val | |
| NR_111987.1:n.4834C>T | ||
| XM_006710563.2:c.4019C>T | XP_006710626.1:p.Ala1340Val | |
| XM_006710565.2:c.4019C>T | XP_006710628.1:p.Ala1340Val | |
| XM_011541213.1:c.4016C>T | XP_011539515.1:p.Ala1339Val | |
| XM_011541214.1:c.3977C>T | XP_011539516.1:p.Ala1326Val | |
| XM_011541215.1:c.3908C>T | XP_011539517.1:p.Ala1303Val | |
| XM_011541216.1:c.4019C>T | XP_011539518.1:p.Ala1340Val | |
| XM_011541217.1:c.4019C>T | XP_011539519.1:p.Ala1340Val | |
| XM_011541218.1:c.4019C>T | XP_011539520.1:p.Ala1340Val | |
| XM_011541219.1:c.3965C>T | XP_011539521.1:p.Ala1322Val | |
| XM_006710563.3:c.4019C>T | XP_006710626.1:p.Ala1340Val | |
| XM_011541216.2:c.4019C>T | XP_011539518.1:p.Ala1340Val | |
| XM_011541217.2:c.4019C>T | XP_011539519.1:p.Ala1340Val | |
| XM_011541218.2:c.4019C>T | XP_011539520.1:p.Ala1340Val | |
| XM_017000996.1:c.3974C>T | XP_016856485.1:p.Ala1325Val | |
| XM_017000997.1:c.4019C>T | XP_016856486.1:p.Ala1340Val | |
| XM_017000999.1:c.3491C>T | XP_016856488.1:p.Ala1164Val | |
| XM_017001000.2:c.3491C>T | XP_016856489.1:p.Ala1164Val | |
| XM_017001001.1:c.3221C>T | XP_016856490.1:p.Ala1074Val | |
| XM_017001003.1:c.2480C>T | XP_016856492.1:p.Ala827Val | |
| XR_001737114.1:n.3885C>T | ||
| XR_001737115.1:n.3870C>T | ||
| NM_015102.5:c.4019C>T MANE Select | NP_055917.1:p.Ala1340Val | |
| NM_001291593.2:c.2480C>T | NP_001278522.1:p.Ala827Val | |
| NM_001291594.2:c.2483C>T | NP_001278523.1:p.Ala828Val | |
| NR_111987.2:n.4786C>T |