Linked Data
ClinVar Variation Id:
501194
dbSNP Id:
rs368005198
ExAC:
2:179494034 G / A
gnomAD v2:
2-179494034-G-A
gnomAD v3:
2-178629307-G-A
gnomAD v4:
2-178629307-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178629307G>A , CM000664.2:g.178629307G>A | GRCh38 |
| NC_000002.11:g.179494034G>A , CM000664.1:g.179494034G>A | GRCh37 |
| NC_000002.10:g.179202279G>A | NCBI36 |
| NG_011618.3:g.206496C>T , LRG_391:g.206496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36714C>T | ENSP00000343764.6:p.Ser12238= | |
| ENST00000342175.11:c.17799C>T | ENSP00000340554.6:p.Ser5933= | |
| ENST00000359218.10:c.17598C>T | ENSP00000352154.5:p.Ser5866= | |
| ENST00000342175.10:c.17799C>T | ENSP00000340554.6:p.Ser5933= | |
| ENST00000342992.10:c.36714C>T | ENSP00000343764.6:p.Ser12238= | |
| ENST00000359218.9:c.17598C>T | ENSP00000352154.5:p.Ser5866= | |
| ENST00000460472.6:c.17223C>T | ENSP00000434586.1:p.Ser5741= | |
| ENST00000589042.5:c.44418C>T MANE Select | ENSP00000467141.1:p.Ser14806= | |
| ENST00000591111.5:c.39495C>T | ENSP00000465570.1:p.Ser13165= | |
| ENST00000615779.4:c.39495C>T | ENSP00000483597.1:p.Ser13165= | |
| NM_001256850.1:c.39495C>T | NP_001243779.1:p.Ser13165= | |
| NM_001267550.2:c.44418C>T MANE Select | NP_001254479.2:p.Ser14806= | |
| NM_003319.4:c.17223C>T | NP_003310.4:p.Ser5741= | |
| NM_133378.4:c.36714C>T | NP_596869.4:p.Ser12238= | |
| NM_133432.3:c.17598C>T | NP_597676.3:p.Ser5866= | |
| NM_133437.4:c.17799C>T | NP_597681.4:p.Ser5933= | |
| XM_011511729.1:c.43515C>T | XP_011510031.1:p.Ser14505= | |
| XM_011511730.1:c.17409C>T | XP_011510032.1:p.Ser5803= | |
| XM_011511731.1:c.17268C>T | XP_011510033.1:p.Ser5756= | |
| XM_017004819.1:c.43311C>T | XP_016860308.1:p.Ser14437= | |
| XM_017004820.1:c.38709C>T | XP_016860309.1:p.Ser12903= | |
| XM_017004821.1:c.38706C>T | XP_016860310.1:p.Ser12902= | |
| XM_017004822.1:c.35748C>T | XP_016860311.1:p.Ser11916= | |
| XM_017004823.1:c.17364C>T | XP_016860312.1:p.Ser5788= | |
| XM_024453094.1:c.38859C>T | XP_024308862.1:p.Ser12953= | |
| XM_024453095.1:c.38856C>T | XP_024308863.1:p.Ser12952= | |
| XM_024453096.1:c.38289C>T | XP_024308864.1:p.Ser12763= | |
| XM_024453097.1:c.35631C>T | XP_024308865.1:p.Ser11877= | |
| XM_024453098.1:c.35550C>T | XP_024308866.1:p.Ser11850= | |
| XM_024453099.1:c.17313C>T | XP_024308867.1:p.Ser5771= | |
| XM_024453100.1:c.7167C>T | XP_024308868.1:p.Ser2389= |