Linked Data
ClinVar Variation Id:
203271
ClinVar RCV Id:
RCV000769071
RCV001129966
RCV001129963
RCV001129964
RCV000726445
RCV001081900
RCV001729441
RCV001129965
RCV001135006
RCV004537569
dbSNP Id:
rs117551279
ExAC:
2:179594573 C / T
gnomAD v2:
2-179594573-C-T
gnomAD v3:
2-178729846-C-T
gnomAD v4:
2-178729846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178729846C>T , CM000664.2:g.178729846C>T | GRCh38 |
| NC_000002.11:g.179594573C>T , CM000664.1:g.179594573C>T | GRCh37 |
| NC_000002.10:g.179302818C>T | NCBI36 |
| NG_011618.3:g.105957G>A , LRG_391:g.105957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.14675G>A | ENSP00000343764.6:p.Arg4892Gln | |
| ENST00000342175.11:c.13858+8236G>A | ENSP00000340554.6:n.13858+8236G>A | |
| ENST00000359218.10:c.13657+8236G>A | ENSP00000352154.5:n.13657+8236G>A | |
| ENST00000342175.10:c.13858+8236G>A | ENSP00000340554.6:n.13858+8236G>A | |
| ENST00000342992.10:c.14675G>A | ENSP00000343764.6:p.Arg4892Gln | |
| ENST00000359218.9:c.13657+8236G>A | ENSP00000352154.5:n.13657+8236G>A | |
| ENST00000460472.6:c.13282+8236G>A | ENSP00000434586.1:n.13282+8236G>A | |
| ENST00000589042.5:c.18407G>A MANE Select | ENSP00000467141.1:p.Arg6136Gln | |
| ENST00000591111.5:c.17456G>A | ENSP00000465570.1:p.Arg5819Gln | |
| ENST00000615779.4:c.17456G>A | ENSP00000483597.1:p.Arg5819Gln | |
| NM_001256850.1:c.17456G>A | NP_001243779.1:p.Arg5819Gln | |
| NM_001267550.2:c.18407G>A MANE Select | NP_001254479.2:p.Arg6136Gln | |
| NM_003319.4:c.13282+8236G>A | NP_003310.4:n.13282+8236G>A | |
| NM_133378.4:c.14675G>A | NP_596869.4:p.Arg4892Gln | |
| NM_133432.3:c.13657+8236G>A | NP_597676.3:n.13657+8236G>A | |
| NM_133437.4:c.13858+8236G>A | NP_597681.4:n.13858+8236G>A | |
| XM_011511729.1:c.17504G>A | XP_011510031.1:p.Arg5835Gln | |
| XM_011511730.1:c.13468+8236G>A | XP_011510032.1:n.13468+8236G>A | |
| XM_011511731.1:c.13327+8236G>A | XP_011510033.1:n.13327+8236G>A | |
| XM_017004819.1:c.17459G>A | XP_016860308.1:p.Arg5820Gln | |
| XM_017004820.1:c.14678G>A | XP_016860309.1:p.Arg4893Gln | |
| XM_017004821.1:c.14675G>A | XP_016860310.1:p.Arg4892Gln | |
| XM_017004822.1:c.17459G>A | XP_016860311.1:p.Arg5820Gln | |
| XM_017004823.1:c.13423+8236G>A | XP_016860312.1:n.13423+8236G>A | |
| XM_024453094.1:c.17459G>A | XP_024308862.1:p.Arg5820Gln | |
| XM_024453095.1:c.17459G>A | XP_024308863.1:p.Arg5820Gln | |
| XM_024453096.1:c.17459G>A | XP_024308864.1:p.Arg5820Gln | |
| XM_024453097.1:c.17459G>A | XP_024308865.1:p.Arg5820Gln | |
| XM_024453098.1:c.17459G>A | XP_024308866.1:p.Arg5820Gln | |
| XM_024453099.1:c.13423+8236G>A | XP_024308867.1:n.13423+8236G>A |