Linked Data
ClinVar Variation Id:
223369
dbSNP Id:
rs770767998
gnomAD v4:
2-178629441-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178629441G>A , CM000664.2:g.178629441G>A | GRCh38 |
| NC_000002.11:g.179494168G>A , CM000664.1:g.179494168G>A | GRCh37 |
| NC_000002.10:g.179202413G>A | NCBI36 |
| NG_011618.3:g.206362C>T , LRG_391:g.206362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36580C>T | ENSP00000343764.6:p.Arg12194Ter | |
| ENST00000342175.11:c.17665C>T | ENSP00000340554.6:p.Arg5889Ter | |
| ENST00000359218.10:c.17464C>T | ENSP00000352154.5:p.Arg5822Ter | |
| ENST00000342175.10:c.17665C>T | ENSP00000340554.6:p.Arg5889Ter | |
| ENST00000342992.10:c.36580C>T | ENSP00000343764.6:p.Arg12194Ter | |
| ENST00000359218.9:c.17464C>T | ENSP00000352154.5:p.Arg5822Ter | |
| ENST00000460472.6:c.17089C>T | ENSP00000434586.1:p.Arg5697Ter | |
| ENST00000589042.5:c.44284C>T MANE Select | ENSP00000467141.1:p.Arg14762Ter | |
| ENST00000591111.5:c.39361C>T | ENSP00000465570.1:p.Arg13121Ter | |
| ENST00000615779.4:c.39361C>T | ENSP00000483597.1:p.Arg13121Ter | |
| NM_001256850.1:c.39361C>T | NP_001243779.1:p.Arg13121Ter | |
| NM_001267550.2:c.44284C>T MANE Select | NP_001254479.2:p.Arg14762Ter | |
| NM_003319.4:c.17089C>T | NP_003310.4:p.Arg5697Ter | |
| NM_133378.4:c.36580C>T | NP_596869.4:p.Arg12194Ter | |
| NM_133432.3:c.17464C>T | NP_597676.3:p.Arg5822Ter | |
| NM_133437.4:c.17665C>T | NP_597681.4:p.Arg5889Ter | |
| XM_011511729.1:c.43381C>T | XP_011510031.1:p.Arg14461Ter | |
| XM_011511730.1:c.17275C>T | XP_011510032.1:p.Arg5759Ter | |
| XM_011511731.1:c.17134C>T | XP_011510033.1:p.Arg5712Ter | |
| XM_017004819.1:c.43177C>T | XP_016860308.1:p.Arg14393Ter | |
| XM_017004820.1:c.38575C>T | XP_016860309.1:p.Arg12859Ter | |
| XM_017004821.1:c.38572C>T | XP_016860310.1:p.Arg12858Ter | |
| XM_017004822.1:c.35614C>T | XP_016860311.1:p.Arg11872Ter | |
| XM_017004823.1:c.17230C>T | XP_016860312.1:p.Arg5744Ter | |
| XM_024453094.1:c.38725C>T | XP_024308862.1:p.Arg12909Ter | |
| XM_024453095.1:c.38722C>T | XP_024308863.1:p.Arg12908Ter | |
| XM_024453096.1:c.38155C>T | XP_024308864.1:p.Arg12719Ter | |
| XM_024453097.1:c.35497C>T | XP_024308865.1:p.Arg11833Ter | |
| XM_024453098.1:c.35416C>T | XP_024308866.1:p.Arg11806Ter | |
| XM_024453099.1:c.17179C>T | XP_024308867.1:p.Arg5727Ter | |
| XM_024453100.1:c.7033C>T | XP_024308868.1:p.Arg2345Ter |