Linked Data
ClinVar Variation Id:
178219
ClinVar RCV Id:
RCV000154953
RCV000269359
RCV000308082
RCV000245212
RCV000366575
RCV000369715
RCV000309522
RCV000845346
RCV001079462
dbSNP Id:
rs186699871
ExAC:
2:179499958 T / C
gnomAD v2:
2-179499958-T-C
gnomAD v3:
2-178635231-T-C
gnomAD v4:
2-178635231-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635231T>C , CM000664.2:g.178635231T>C | GRCh38 |
| NC_000002.11:g.179499958T>C , CM000664.1:g.179499958T>C | GRCh37 |
| NC_000002.10:g.179208203T>C | NCBI36 |
| NG_011618.3:g.200572A>G , LRG_391:g.200572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34254A>G | ENSP00000343764.6:p.Ala11418= | |
| ENST00000342175.11:c.15339A>G | ENSP00000340554.6:p.Ala5113= | |
| ENST00000359218.10:c.15138A>G | ENSP00000352154.5:p.Ala5046= | |
| ENST00000342175.10:c.15339A>G | ENSP00000340554.6:p.Ala5113= | |
| ENST00000342992.10:c.34254A>G | ENSP00000343764.6:p.Ala11418= | |
| ENST00000359218.9:c.15138A>G | ENSP00000352154.5:p.Ala5046= | |
| ENST00000460472.6:c.14763A>G | ENSP00000434586.1:p.Ala4921= | |
| ENST00000589042.5:c.41958A>G MANE Select | ENSP00000467141.1:p.Ala13986= | |
| ENST00000591111.5:c.37035A>G | ENSP00000465570.1:p.Ala12345= | |
| ENST00000615779.4:c.37035A>G | ENSP00000483597.1:p.Ala12345= | |
| NM_001256850.1:c.37035A>G | NP_001243779.1:p.Ala12345= | |
| NM_001267550.2:c.41958A>G MANE Select | NP_001254479.2:p.Ala13986= | |
| NM_003319.4:c.14763A>G | NP_003310.4:p.Ala4921= | |
| NM_133378.4:c.34254A>G | NP_596869.4:p.Ala11418= | |
| NM_133432.3:c.15138A>G | NP_597676.3:p.Ala5046= | |
| NM_133437.4:c.15339A>G | NP_597681.4:p.Ala5113= | |
| XM_011511729.1:c.41055A>G | XP_011510031.1:p.Ala13685= | |
| XM_011511730.1:c.14949A>G | XP_011510032.1:p.Ala4983= | |
| XM_011511731.1:c.14808A>G | XP_011510033.1:p.Ala4936= | |
| XM_017004819.1:c.40851A>G | XP_016860308.1:p.Ala13617= | |
| XM_017004820.1:c.36249A>G | XP_016860309.1:p.Ala12083= | |
| XM_017004821.1:c.36246A>G | XP_016860310.1:p.Ala12082= | |
| XM_017004822.1:c.33288A>G | XP_016860311.1:p.Ala11096= | |
| XM_017004823.1:c.14904A>G | XP_016860312.1:p.Ala4968= | |
| XM_024453094.1:c.36399A>G | XP_024308862.1:p.Ala12133= | |
| XM_024453095.1:c.36396A>G | XP_024308863.1:p.Ala12132= | |
| XM_024453096.1:c.35829A>G | XP_024308864.1:p.Ala11943= | |
| XM_024453097.1:c.33171A>G | XP_024308865.1:p.Ala11057= | |
| XM_024453098.1:c.33090A>G | XP_024308866.1:p.Ala11030= | |
| XM_024453099.1:c.14853A>G | XP_024308867.1:p.Ala4951= | |
| XM_024453100.1:c.4707A>G | XP_024308868.1:p.Ala1569= |