Linked Data
ClinVar Variation Id:
288722
dbSNP Id:
rs376351293
ExAC:
1:5934594 G / A
gnomAD v2:
1-5934594-G-A
gnomAD v3:
1-5874534-G-A
gnomAD v4:
1-5874534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5874534G>A , CM000663.2:g.5874534G>A | GRCh38 |
| NC_000001.10:g.5934594G>A , CM000663.1:g.5934594G>A | GRCh37 |
| NC_000001.9:g.5857181G>A | NCBI36 |
| NG_011724.2:g.122938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3168C>T MANE Select | ENSP00000367398.4:p.His1056= | |
| ENST00000378156.8:c.3168C>T | ENSP00000367398.4:p.His1056= | |
| ENST00000378169.7:c.*2069C>T | ENSP00000367411.3:n.*2069C>T | |
| ENST00000478423.6:n.2900C>T | ||
| ENST00000489180.6:c.*979C>T | ENSP00000423747.1:n.*979C>T | |
| NM_001291593.1:c.1629C>T | NP_001278522.1:p.His543= | |
| NM_001291594.1:c.1632C>T | NP_001278523.1:p.His544= | |
| NM_015102.4:c.3168C>T | NP_055917.1:p.His1056= | |
| NR_111987.1:n.3983C>T | ||
| XM_006710563.2:c.3168C>T | XP_006710626.1:p.His1056= | |
| XM_006710565.2:c.3168C>T | XP_006710628.1:p.His1056= | |
| XM_011541213.1:c.3165C>T | XP_011539515.1:p.His1055= | |
| XM_011541214.1:c.3126C>T | XP_011539516.1:p.His1042= | |
| XM_011541215.1:c.3057C>T | XP_011539517.1:p.His1019= | |
| XM_011541216.1:c.3168C>T | XP_011539518.1:p.His1056= | |
| XM_011541217.1:c.3168C>T | XP_011539519.1:p.His1056= | |
| XM_011541218.1:c.3168C>T | XP_011539520.1:p.His1056= | |
| XM_011541219.1:c.3114C>T | XP_011539521.1:p.His1038= | |
| XM_011541220.1:c.3168C>T | XP_011539522.1:p.His1056= | |
| XR_946604.1:n.3082+340C>T | ||
| XM_006710563.3:c.3168C>T | XP_006710626.1:p.His1056= | |
| XM_011541216.2:c.3168C>T | XP_011539518.1:p.His1056= | |
| XM_011541217.2:c.3168C>T | XP_011539519.1:p.His1056= | |
| XM_011541218.2:c.3168C>T | XP_011539520.1:p.His1056= | |
| XM_017000996.1:c.3123C>T | XP_016856485.1:p.His1041= | |
| XM_017000997.1:c.3168C>T | XP_016856486.1:p.His1056= | |
| XM_017000998.1:c.3168C>T | XP_016856487.1:p.His1056= | |
| XM_017000999.1:c.2640C>T | XP_016856488.1:p.His880= | |
| XM_017001000.2:c.2640C>T | XP_016856489.1:p.His880= | |
| XM_017001001.1:c.2370C>T | XP_016856490.1:p.His790= | |
| XM_017001003.1:c.1629C>T | XP_016856492.1:p.His543= | |
| XR_001737114.1:n.3206C>T | ||
| XR_001737115.1:n.3082+340C>T | ||
| NM_015102.5:c.3168C>T MANE Select | NP_055917.1:p.His1056= | |
| NM_001291593.2:c.1629C>T | NP_001278522.1:p.His543= | |
| NM_001291594.2:c.1632C>T | NP_001278523.1:p.His544= | |
| NR_111987.2:n.3935C>T |