Linked Data
ClinVar Variation Id:
46991
ClinVar RCV Id:
RCV000040261
RCV000118756
RCV000282960
RCV000385022
RCV000378515
RCV000621910
RCV000986939
RCV000767850
RCV001085279
RCV004541155
RCV003149647
dbSNP Id:
rs201057307
ExAC:
2:179485846 G / C
gnomAD v2:
2-179485846-G-C
gnomAD v3:
2-178621119-G-C
gnomAD v4:
2-178621119-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621119G>C , CM000664.2:g.178621119G>C | GRCh38 |
| NC_000002.11:g.179485846G>C , CM000664.1:g.179485846G>C | GRCh37 |
| NC_000002.10:g.179194091G>C | NCBI36 |
| NG_011618.3:g.214684C>G , LRG_391:g.214684C>G | |
| NG_051363.1:g.103293G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37895C>G | ENSP00000343764.6:p.Ala12632Gly | |
| ENST00000342175.11:c.18980C>G | ENSP00000340554.6:p.Ala6327Gly | |
| ENST00000359218.10:c.18779C>G | ENSP00000352154.5:p.Ala6260Gly | |
| ENST00000342175.10:c.18980C>G | ENSP00000340554.6:p.Ala6327Gly | |
| ENST00000342992.10:c.37895C>G | ENSP00000343764.6:p.Ala12632Gly | |
| ENST00000359218.9:c.18779C>G | ENSP00000352154.5:p.Ala6260Gly | |
| ENST00000460472.6:c.18404C>G | ENSP00000434586.1:p.Ala6135Gly | |
| ENST00000589042.5:c.45599C>G MANE Select | ENSP00000467141.1:p.Ala15200Gly | |
| ENST00000591111.5:c.40676C>G | ENSP00000465570.1:p.Ala13559Gly | |
| ENST00000615779.4:c.40676C>G | ENSP00000483597.1:p.Ala13559Gly | |
| NM_001256850.1:c.40676C>G | NP_001243779.1:p.Ala13559Gly | |
| NM_001267550.2:c.45599C>G MANE Select | NP_001254479.2:p.Ala15200Gly | |
| NM_003319.4:c.18404C>G | NP_003310.4:p.Ala6135Gly | |
| NM_133378.4:c.37895C>G | NP_596869.4:p.Ala12632Gly | |
| NM_133432.3:c.18779C>G | NP_597676.3:p.Ala6260Gly | |
| NM_133437.4:c.18980C>G | NP_597681.4:p.Ala6327Gly | |
| XM_011511729.1:c.44696C>G | XP_011510031.1:p.Ala14899Gly | |
| XM_011511730.1:c.18590C>G | XP_011510032.1:p.Ala6197Gly | |
| XM_011511731.1:c.18449C>G | XP_011510033.1:p.Ala6150Gly | |
| XM_017004819.1:c.44492C>G | XP_016860308.1:p.Ala14831Gly | |
| XM_017004820.1:c.39890C>G | XP_016860309.1:p.Ala13297Gly | |
| XM_017004821.1:c.39887C>G | XP_016860310.1:p.Ala13296Gly | |
| XM_017004822.1:c.36929C>G | XP_016860311.1:p.Ala12310Gly | |
| XM_017004823.1:c.18545C>G | XP_016860312.1:p.Ala6182Gly | |
| XM_024453094.1:c.40040C>G | XP_024308862.1:p.Ala13347Gly | |
| XM_024453095.1:c.40037C>G | XP_024308863.1:p.Ala13346Gly | |
| XM_024453096.1:c.39470C>G | XP_024308864.1:p.Ala13157Gly | |
| XM_024453097.1:c.36812C>G | XP_024308865.1:p.Ala12271Gly | |
| XM_024453098.1:c.36731C>G | XP_024308866.1:p.Ala12244Gly | |
| XM_024453099.1:c.18494C>G | XP_024308867.1:p.Ala6165Gly | |
| XM_024453100.1:c.8348C>G | XP_024308868.1:p.Ala2783Gly |