Linked Data
ClinVar Variation Id:
290903
dbSNP Id:
rs199912631
ExAC:
1:5964678 A / T
gnomAD v2:
1-5964678-A-T
gnomAD v3:
1-5904618-A-T
gnomAD v4:
1-5904618-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5904618A>T , CM000663.2:g.5904618A>T | GRCh38 |
| NC_000001.10:g.5964678A>T , CM000663.1:g.5964678A>T | GRCh37 |
| NC_000001.9:g.5887265A>T | NCBI36 |
| NG_011724.2:g.92854T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.2142T>A MANE Select | ENSP00000367398.4:p.Ala714= | |
| ENST00000378156.8:c.2142T>A | ENSP00000367398.4:p.Ala714= | |
| ENST00000378169.7:c.*1043T>A | ENSP00000367411.3:n.*1043T>A | |
| ENST00000466897.1:c.220T>A | ||
| ENST00000478423.6:n.1874T>A | ||
| ENST00000489180.6:c.2139T>A | ENSP00000423747.1:p.Ala713= | |
| ENST00000622020.4:c.2139T>A | ENSP00000481831.2:p.Ala713= | |
| NM_001291593.1:c.603T>A | NP_001278522.1:p.Ala201= | |
| NM_001291594.1:c.606T>A | NP_001278523.1:p.Ala202= | |
| NM_015102.4:c.2142T>A | NP_055917.1:p.Ala714= | |
| NR_111987.1:n.2407T>A | ||
| XM_006710563.2:c.2142T>A | XP_006710626.1:p.Ala714= | |
| XM_006710565.2:c.2142T>A | XP_006710628.1:p.Ala714= | |
| XM_011541213.1:c.2139T>A | XP_011539515.1:p.Ala713= | |
| XM_011541214.1:c.2142T>A | XP_011539516.1:p.Ala714= | |
| XM_011541215.1:c.2031T>A | XP_011539517.1:p.Ala677= | |
| XM_011541216.1:c.2142T>A | XP_011539518.1:p.Ala714= | |
| XM_011541217.1:c.2142T>A | XP_011539519.1:p.Ala714= | |
| XM_011541218.1:c.2142T>A | XP_011539520.1:p.Ala714= | |
| XM_011541219.1:c.2088T>A | XP_011539521.1:p.Ala696= | |
| XM_011541220.1:c.2142T>A | XP_011539522.1:p.Ala714= | |
| XR_946604.1:n.2180T>A | ||
| XR_946605.1:n.2180T>A | ||
| XM_006710563.3:c.2142T>A | XP_006710626.1:p.Ala714= | |
| XM_011541216.2:c.2142T>A | XP_011539518.1:p.Ala714= | |
| XM_011541217.2:c.2142T>A | XP_011539519.1:p.Ala714= | |
| XM_011541218.2:c.2142T>A | XP_011539520.1:p.Ala714= | |
| XM_017000996.1:c.2139T>A | XP_016856485.1:p.Ala713= | |
| XM_017000997.1:c.2142T>A | XP_016856486.1:p.Ala714= | |
| XM_017000998.1:c.2142T>A | XP_016856487.1:p.Ala714= | |
| XM_017000999.1:c.1614T>A | XP_016856488.1:p.Ala538= | |
| XM_017001000.2:c.1614T>A | XP_016856489.1:p.Ala538= | |
| XM_017001001.1:c.1344T>A | XP_016856490.1:p.Ala448= | |
| XM_017001002.1:c.2142T>A | XP_016856491.1:p.Ala714= | |
| XM_017001003.1:c.603T>A | XP_016856492.1:p.Ala201= | |
| XR_001737114.1:n.2180T>A | ||
| XR_001737115.1:n.2180T>A | ||
| NM_015102.5:c.2142T>A MANE Select | NP_055917.1:p.Ala714= | |
| NM_001291593.2:c.603T>A | NP_001278522.1:p.Ala201= | |
| NM_001291594.2:c.606T>A | NP_001278523.1:p.Ala202= | |
| NR_111987.2:n.2359T>A |