Linked Data
ClinVar Variation Id:
282620
ClinVar RCV Id:
RCV000552297
RCV001130440
RCV001130442
RCV001130441
RCV001130443
RCV001131170
RCV002401979
RCV003235174
RCV000263333
dbSNP Id:
rs148528251
ExAC:
2:179498153 A / G
gnomAD v2:
2-179498153-A-G
gnomAD v3:
2-178633426-A-G
gnomAD v4:
2-178633426-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633426A>G , CM000664.2:g.178633426A>G | GRCh38 |
| NC_000002.11:g.179498153A>G , CM000664.1:g.179498153A>G | GRCh37 |
| NC_000002.10:g.179206398A>G | NCBI36 |
| NG_011618.3:g.202377T>C , LRG_391:g.202377T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35229T>C | ENSP00000343764.6:p.Asn11743= | |
| ENST00000342175.11:c.16314T>C | ENSP00000340554.6:p.Asn5438= | |
| ENST00000359218.10:c.16113T>C | ENSP00000352154.5:p.Asn5371= | |
| ENST00000342175.10:c.16314T>C | ENSP00000340554.6:p.Asn5438= | |
| ENST00000342992.10:c.35229T>C | ENSP00000343764.6:p.Asn11743= | |
| ENST00000359218.9:c.16113T>C | ENSP00000352154.5:p.Asn5371= | |
| ENST00000460472.6:c.15738T>C | ENSP00000434586.1:p.Asn5246= | |
| ENST00000589042.5:c.42933T>C MANE Select | ENSP00000467141.1:p.Asn14311= | |
| ENST00000591111.5:c.38010T>C | ENSP00000465570.1:p.Asn12670= | |
| ENST00000615779.4:c.38010T>C | ENSP00000483597.1:p.Asn12670= | |
| NM_001256850.1:c.38010T>C | NP_001243779.1:p.Asn12670= | |
| NM_001267550.2:c.42933T>C MANE Select | NP_001254479.2:p.Asn14311= | |
| NM_003319.4:c.15738T>C | NP_003310.4:p.Asn5246= | |
| NM_133378.4:c.35229T>C | NP_596869.4:p.Asn11743= | |
| NM_133432.3:c.16113T>C | NP_597676.3:p.Asn5371= | |
| NM_133437.4:c.16314T>C | NP_597681.4:p.Asn5438= | |
| XM_011511729.1:c.42030T>C | XP_011510031.1:p.Asn14010= | |
| XM_011511730.1:c.15924T>C | XP_011510032.1:p.Asn5308= | |
| XM_011511731.1:c.15783T>C | XP_011510033.1:p.Asn5261= | |
| XM_017004819.1:c.41826T>C | XP_016860308.1:p.Asn13942= | |
| XM_017004820.1:c.37224T>C | XP_016860309.1:p.Asn12408= | |
| XM_017004821.1:c.37221T>C | XP_016860310.1:p.Asn12407= | |
| XM_017004822.1:c.34263T>C | XP_016860311.1:p.Asn11421= | |
| XM_017004823.1:c.15879T>C | XP_016860312.1:p.Asn5293= | |
| XM_024453094.1:c.37374T>C | XP_024308862.1:p.Asn12458= | |
| XM_024453095.1:c.37371T>C | XP_024308863.1:p.Asn12457= | |
| XM_024453096.1:c.36804T>C | XP_024308864.1:p.Asn12268= | |
| XM_024453097.1:c.34146T>C | XP_024308865.1:p.Asn11382= | |
| XM_024453098.1:c.34065T>C | XP_024308866.1:p.Asn11355= | |
| XM_024453099.1:c.15828T>C | XP_024308867.1:p.Asn5276= | |
| XM_024453100.1:c.5682T>C | XP_024308868.1:p.Asn1894= |