Linked Data
ClinVar Variation Id:
46950
ClinVar RCV Id:
RCV000040220
RCV000622242
RCV000770039
RCV000868263
RCV001128762
RCV001128763
RCV001128759
RCV001128760
RCV001128761
RCV001528673
dbSNP Id:
rs369128249
ExAC:
2:179499985 A / G
gnomAD v2:
2-179499985-A-G
gnomAD v3:
2-178635258-A-G
gnomAD v4:
2-178635258-A-G
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635258A>G , CM000664.2:g.178635258A>G | GRCh38 |
| NC_000002.11:g.179499985A>G , CM000664.1:g.179499985A>G | GRCh37 |
| NC_000002.10:g.179208230A>G | NCBI36 |
| NG_011618.3:g.200545T>C , LRG_391:g.200545T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34227T>C | ENSP00000343764.6:p.Tyr11409= | |
| ENST00000342175.11:c.15312T>C | ENSP00000340554.6:p.Tyr5104= | |
| ENST00000359218.10:c.15111T>C | ENSP00000352154.5:p.Tyr5037= | |
| ENST00000342175.10:c.15312T>C | ENSP00000340554.6:p.Tyr5104= | |
| ENST00000342992.10:c.34227T>C | ENSP00000343764.6:p.Tyr11409= | |
| ENST00000359218.9:c.15111T>C | ENSP00000352154.5:p.Tyr5037= | |
| ENST00000460472.6:c.14736T>C | ENSP00000434586.1:p.Tyr4912= | |
| ENST00000589042.5:c.41931T>C MANE Select | ENSP00000467141.1:p.Tyr13977= | |
| ENST00000591111.5:c.37008T>C | ENSP00000465570.1:p.Tyr12336= | |
| ENST00000615779.4:c.37008T>C | ENSP00000483597.1:p.Tyr12336= | |
| NM_001256850.1:c.37008T>C | NP_001243779.1:p.Tyr12336= | |
| NM_001267550.2:c.41931T>C MANE Select | NP_001254479.2:p.Tyr13977= | |
| NM_003319.4:c.14736T>C | NP_003310.4:p.Tyr4912= | |
| NM_133378.4:c.34227T>C | NP_596869.4:p.Tyr11409= | |
| NM_133432.3:c.15111T>C | NP_597676.3:p.Tyr5037= | |
| NM_133437.4:c.15312T>C | NP_597681.4:p.Tyr5104= | |
| XM_011511729.1:c.41028T>C | XP_011510031.1:p.Tyr13676= | |
| XM_011511730.1:c.14922T>C | XP_011510032.1:p.Tyr4974= | |
| XM_011511731.1:c.14781T>C | XP_011510033.1:p.Tyr4927= | |
| XM_017004819.1:c.40824T>C | XP_016860308.1:p.Tyr13608= | |
| XM_017004820.1:c.36222T>C | XP_016860309.1:p.Tyr12074= | |
| XM_017004821.1:c.36219T>C | XP_016860310.1:p.Tyr12073= | |
| XM_017004822.1:c.33261T>C | XP_016860311.1:p.Tyr11087= | |
| XM_017004823.1:c.14877T>C | XP_016860312.1:p.Tyr4959= | |
| XM_024453094.1:c.36372T>C | XP_024308862.1:p.Tyr12124= | |
| XM_024453095.1:c.36369T>C | XP_024308863.1:p.Tyr12123= | |
| XM_024453096.1:c.35802T>C | XP_024308864.1:p.Tyr11934= | |
| XM_024453097.1:c.33144T>C | XP_024308865.1:p.Tyr11048= | |
| XM_024453098.1:c.33063T>C | XP_024308866.1:p.Tyr11021= | |
| XM_024453099.1:c.14826T>C | XP_024308867.1:p.Tyr4942= | |
| XM_024453100.1:c.4680T>C | XP_024308868.1:p.Tyr1560= |