Linked Data
ClinVar Variation Id:
180102
dbSNP Id:
rs727505350
gnomAD v3:
2-178622684-G-A
gnomAD v4:
2-178622684-G-A
PubMed:
PMID:25163546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178622684G>A , CM000664.2:g.178622684G>A | GRCh38 |
| NC_000002.11:g.179487411G>A , CM000664.1:g.179487411G>A | GRCh37 |
| NC_000002.10:g.179195656G>A | NCBI36 |
| NG_011618.3:g.213119C>T , LRG_391:g.213119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37195C>T | ENSP00000343764.6:p.Arg12399Ter | |
| ENST00000342175.11:c.18280C>T | ENSP00000340554.6:p.Arg6094Ter | |
| ENST00000359218.10:c.18079C>T | ENSP00000352154.5:p.Arg6027Ter | |
| ENST00000342175.10:c.18280C>T | ENSP00000340554.6:p.Arg6094Ter | |
| ENST00000342992.10:c.37195C>T | ENSP00000343764.6:p.Arg12399Ter | |
| ENST00000359218.9:c.18079C>T | ENSP00000352154.5:p.Arg6027Ter | |
| ENST00000460472.6:c.17704C>T | ENSP00000434586.1:p.Arg5902Ter | |
| ENST00000589042.5:c.44899C>T MANE Select | ENSP00000467141.1:p.Arg14967Ter | |
| ENST00000591111.5:c.39976C>T | ENSP00000465570.1:p.Arg13326Ter | |
| ENST00000615779.4:c.39976C>T | ENSP00000483597.1:p.Arg13326Ter | |
| NM_001256850.1:c.39976C>T | NP_001243779.1:p.Arg13326Ter | |
| NM_001267550.2:c.44899C>T MANE Select | NP_001254479.2:p.Arg14967Ter | |
| NM_003319.4:c.17704C>T | NP_003310.4:p.Arg5902Ter | |
| NM_133378.4:c.37195C>T | NP_596869.4:p.Arg12399Ter | |
| NM_133432.3:c.18079C>T | NP_597676.3:p.Arg6027Ter | |
| NM_133437.4:c.18280C>T | NP_597681.4:p.Arg6094Ter | |
| XM_011511729.1:c.43996C>T | XP_011510031.1:p.Arg14666Ter | |
| XM_011511730.1:c.17890C>T | XP_011510032.1:p.Arg5964Ter | |
| XM_011511731.1:c.17749C>T | XP_011510033.1:p.Arg5917Ter | |
| XM_017004819.1:c.43792C>T | XP_016860308.1:p.Arg14598Ter | |
| XM_017004820.1:c.39190C>T | XP_016860309.1:p.Arg13064Ter | |
| XM_017004821.1:c.39187C>T | XP_016860310.1:p.Arg13063Ter | |
| XM_017004822.1:c.36229C>T | XP_016860311.1:p.Arg12077Ter | |
| XM_017004823.1:c.17845C>T | XP_016860312.1:p.Arg5949Ter | |
| XM_024453094.1:c.39340C>T | XP_024308862.1:p.Arg13114Ter | |
| XM_024453095.1:c.39337C>T | XP_024308863.1:p.Arg13113Ter | |
| XM_024453096.1:c.38770C>T | XP_024308864.1:p.Arg12924Ter | |
| XM_024453097.1:c.36112C>T | XP_024308865.1:p.Arg12038Ter | |
| XM_024453098.1:c.36031C>T | XP_024308866.1:p.Arg12011Ter | |
| XM_024453099.1:c.17794C>T | XP_024308867.1:p.Arg5932Ter | |
| XM_024453100.1:c.7648C>T | XP_024308868.1:p.Arg2550Ter |