Linked Data
ClinVar Variation Id:
374756
dbSNP Id:
rs1057519234
gnomAD v3:
2-178632946-G-T
gnomAD v4:
2-178632946-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632946G>T , CM000664.2:g.178632946G>T | GRCh38 |
| NC_000002.11:g.179497673G>T , CM000664.1:g.179497673G>T | GRCh37 |
| NC_000002.10:g.179205918G>T | NCBI36 |
| NG_011618.3:g.202857C>A , LRG_391:g.202857C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35481C>A | ENSP00000343764.6:p.Ala11827= | |
| ENST00000342175.11:c.16566C>A | ENSP00000340554.6:p.Ala5522= | |
| ENST00000359218.10:c.16365C>A | ENSP00000352154.5:p.Ala5455= | |
| ENST00000342175.10:c.16566C>A | ENSP00000340554.6:p.Ala5522= | |
| ENST00000342992.10:c.35481C>A | ENSP00000343764.6:p.Ala11827= | |
| ENST00000359218.9:c.16365C>A | ENSP00000352154.5:p.Ala5455= | |
| ENST00000460472.6:c.15990C>A | ENSP00000434586.1:p.Ala5330= | |
| ENST00000589042.5:c.43185C>A MANE Select | ENSP00000467141.1:p.Ala14395= | |
| ENST00000591111.5:c.38262C>A | ENSP00000465570.1:p.Ala12754= | |
| ENST00000615779.4:c.38262C>A | ENSP00000483597.1:p.Ala12754= | |
| NM_001256850.1:c.38262C>A | NP_001243779.1:p.Ala12754= | |
| NM_001267550.2:c.43185C>A MANE Select | NP_001254479.2:p.Ala14395= | |
| NM_003319.4:c.15990C>A | NP_003310.4:p.Ala5330= | |
| NM_133378.4:c.35481C>A | NP_596869.4:p.Ala11827= | |
| NM_133432.3:c.16365C>A | NP_597676.3:p.Ala5455= | |
| NM_133437.4:c.16566C>A | NP_597681.4:p.Ala5522= | |
| XM_011511729.1:c.42282C>A | XP_011510031.1:p.Ala14094= | |
| XM_011511730.1:c.16176C>A | XP_011510032.1:p.Ala5392= | |
| XM_011511731.1:c.16035C>A | XP_011510033.1:p.Ala5345= | |
| XM_017004819.1:c.42078C>A | XP_016860308.1:p.Ala14026= | |
| XM_017004820.1:c.37476C>A | XP_016860309.1:p.Ala12492= | |
| XM_017004821.1:c.37473C>A | XP_016860310.1:p.Ala12491= | |
| XM_017004822.1:c.34515C>A | XP_016860311.1:p.Ala11505= | |
| XM_017004823.1:c.16131C>A | XP_016860312.1:p.Ala5377= | |
| XM_024453094.1:c.37626C>A | XP_024308862.1:p.Ala12542= | |
| XM_024453095.1:c.37623C>A | XP_024308863.1:p.Ala12541= | |
| XM_024453096.1:c.37056C>A | XP_024308864.1:p.Ala12352= | |
| XM_024453097.1:c.34398C>A | XP_024308865.1:p.Ala11466= | |
| XM_024453098.1:c.34317C>A | XP_024308866.1:p.Ala11439= | |
| XM_024453099.1:c.16080C>A | XP_024308867.1:p.Ala5360= | |
| XM_024453100.1:c.5934C>A | XP_024308868.1:p.Ala1978= |