Linked Data
ClinVar Variation Id:
202637
dbSNP Id:
rs752671402
ExAC:
2:179487410 C / T
gnomAD v2:
2-179487410-C-T
gnomAD v3:
2-178622683-C-T
gnomAD v4:
2-178622683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178622683C>T , CM000664.2:g.178622683C>T | GRCh38 |
| NC_000002.11:g.179487410C>T , CM000664.1:g.179487410C>T | GRCh37 |
| NC_000002.10:g.179195655C>T | NCBI36 |
| NG_011618.3:g.213120G>A , LRG_391:g.213120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37196G>A | ENSP00000343764.6:p.Arg12399Gln | |
| ENST00000342175.11:c.18281G>A | ENSP00000340554.6:p.Arg6094Gln | |
| ENST00000359218.10:c.18080G>A | ENSP00000352154.5:p.Arg6027Gln | |
| ENST00000342175.10:c.18281G>A | ENSP00000340554.6:p.Arg6094Gln | |
| ENST00000342992.10:c.37196G>A | ENSP00000343764.6:p.Arg12399Gln | |
| ENST00000359218.9:c.18080G>A | ENSP00000352154.5:p.Arg6027Gln | |
| ENST00000460472.6:c.17705G>A | ENSP00000434586.1:p.Arg5902Gln | |
| ENST00000589042.5:c.44900G>A MANE Select | ENSP00000467141.1:p.Arg14967Gln | |
| ENST00000591111.5:c.39977G>A | ENSP00000465570.1:p.Arg13326Gln | |
| ENST00000615779.4:c.39977G>A | ENSP00000483597.1:p.Arg13326Gln | |
| NM_001256850.1:c.39977G>A | NP_001243779.1:p.Arg13326Gln | |
| NM_001267550.2:c.44900G>A MANE Select | NP_001254479.2:p.Arg14967Gln | |
| NM_003319.4:c.17705G>A | NP_003310.4:p.Arg5902Gln | |
| NM_133378.4:c.37196G>A | NP_596869.4:p.Arg12399Gln | |
| NM_133432.3:c.18080G>A | NP_597676.3:p.Arg6027Gln | |
| NM_133437.4:c.18281G>A | NP_597681.4:p.Arg6094Gln | |
| XM_011511729.1:c.43997G>A | XP_011510031.1:p.Arg14666Gln | |
| XM_011511730.1:c.17891G>A | XP_011510032.1:p.Arg5964Gln | |
| XM_011511731.1:c.17750G>A | XP_011510033.1:p.Arg5917Gln | |
| XM_017004819.1:c.43793G>A | XP_016860308.1:p.Arg14598Gln | |
| XM_017004820.1:c.39191G>A | XP_016860309.1:p.Arg13064Gln | |
| XM_017004821.1:c.39188G>A | XP_016860310.1:p.Arg13063Gln | |
| XM_017004822.1:c.36230G>A | XP_016860311.1:p.Arg12077Gln | |
| XM_017004823.1:c.17846G>A | XP_016860312.1:p.Arg5949Gln | |
| XM_024453094.1:c.39341G>A | XP_024308862.1:p.Arg13114Gln | |
| XM_024453095.1:c.39338G>A | XP_024308863.1:p.Arg13113Gln | |
| XM_024453096.1:c.38771G>A | XP_024308864.1:p.Arg12924Gln | |
| XM_024453097.1:c.36113G>A | XP_024308865.1:p.Arg12038Gln | |
| XM_024453098.1:c.36032G>A | XP_024308866.1:p.Arg12011Gln | |
| XM_024453099.1:c.17795G>A | XP_024308867.1:p.Arg5932Gln | |
| XM_024453100.1:c.7649G>A | XP_024308868.1:p.Arg2550Gln |