Linked Data
ClinVar Variation Id:
202635
ClinVar RCV Id:
RCV000184523
dbSNP Id:
rs763464756
ExAC:
2:179495045 T / C
gnomAD v2:
2-179495045-T-C
gnomAD v4:
2-178630318-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630318T>C , CM000664.2:g.178630318T>C | GRCh38 |
| NC_000002.11:g.179495045T>C , CM000664.1:g.179495045T>C | GRCh37 |
| NC_000002.10:g.179203290T>C | NCBI36 |
| NG_011618.3:g.205485A>G , LRG_391:g.205485A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.36500A>G | ENSP00000343764.6:p.Asn12167Ser | |
| ENST00000342175.11:c.17585A>G | ENSP00000340554.6:p.Asn5862Ser | |
| ENST00000359218.10:c.17384A>G | ENSP00000352154.5:p.Asn5795Ser | |
| ENST00000342175.10:c.17585A>G | ENSP00000340554.6:p.Asn5862Ser | |
| ENST00000342992.10:c.36500A>G | ENSP00000343764.6:p.Asn12167Ser | |
| ENST00000359218.9:c.17384A>G | ENSP00000352154.5:p.Asn5795Ser | |
| ENST00000460472.6:c.17009A>G | ENSP00000434586.1:p.Asn5670Ser | |
| ENST00000589042.5:c.44204A>G MANE Select | ENSP00000467141.1:p.Asn14735Ser | |
| ENST00000591111.5:c.39281A>G | ENSP00000465570.1:p.Asn13094Ser | |
| ENST00000615779.4:c.39281A>G | ENSP00000483597.1:p.Asn13094Ser | |
| NM_001256850.1:c.39281A>G | NP_001243779.1:p.Asn13094Ser | |
| NM_001267550.2:c.44204A>G MANE Select | NP_001254479.2:p.Asn14735Ser | |
| NM_003319.4:c.17009A>G | NP_003310.4:p.Asn5670Ser | |
| NM_133378.4:c.36500A>G | NP_596869.4:p.Asn12167Ser | |
| NM_133432.3:c.17384A>G | NP_597676.3:p.Asn5795Ser | |
| NM_133437.4:c.17585A>G | NP_597681.4:p.Asn5862Ser | |
| XM_011511729.1:c.43301A>G | XP_011510031.1:p.Asn14434Ser | |
| XM_011511730.1:c.17195A>G | XP_011510032.1:p.Asn5732Ser | |
| XM_011511731.1:c.17054A>G | XP_011510033.1:p.Asn5685Ser | |
| XM_017004819.1:c.43097A>G | XP_016860308.1:p.Asn14366Ser | |
| XM_017004820.1:c.38495A>G | XP_016860309.1:p.Asn12832Ser | |
| XM_017004821.1:c.38492A>G | XP_016860310.1:p.Asn12831Ser | |
| XM_017004822.1:c.35534A>G | XP_016860311.1:p.Asn11845Ser | |
| XM_017004823.1:c.17150A>G | XP_016860312.1:p.Asn5717Ser | |
| XM_024453094.1:c.38645A>G | XP_024308862.1:p.Asn12882Ser | |
| XM_024453095.1:c.38642A>G | XP_024308863.1:p.Asn12881Ser | |
| XM_024453096.1:c.38075A>G | XP_024308864.1:p.Asn12692Ser | |
| XM_024453097.1:c.35417A>G | XP_024308865.1:p.Asn11806Ser | |
| XM_024453098.1:c.35336A>G | XP_024308866.1:p.Asn11779Ser | |
| XM_024453099.1:c.17099A>G | XP_024308867.1:p.Asn5700Ser | |
| XM_024453100.1:c.6953A>G | XP_024308868.1:p.Asn2318Ser |