Linked Data
ClinVar Variation Id:
178218
ClinVar RCV Id:
RCV000154952
RCV000228754
RCV000253166
RCV001134012
RCV001134011
RCV001134013
RCV001135518
RCV001135519
RCV001171015
RCV001719967
dbSNP Id:
rs369959066
ExAC:
2:179498022 G / A
gnomAD v2:
2-179498022-G-A
gnomAD v3:
2-178633295-G-A
gnomAD v4:
2-178633295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633295G>A , CM000664.2:g.178633295G>A | GRCh38 |
| NC_000002.11:g.179498022G>A , CM000664.1:g.179498022G>A | GRCh37 |
| NC_000002.10:g.179206267G>A | NCBI36 |
| NG_011618.3:g.202508C>T , LRG_391:g.202508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35274C>T | ENSP00000343764.6:p.Tyr11758= | |
| ENST00000342175.11:c.16359C>T | ENSP00000340554.6:p.Tyr5453= | |
| ENST00000359218.10:c.16158C>T | ENSP00000352154.5:p.Tyr5386= | |
| ENST00000342175.10:c.16359C>T | ENSP00000340554.6:p.Tyr5453= | |
| ENST00000342992.10:c.35274C>T | ENSP00000343764.6:p.Tyr11758= | |
| ENST00000359218.9:c.16158C>T | ENSP00000352154.5:p.Tyr5386= | |
| ENST00000460472.6:c.15783C>T | ENSP00000434586.1:p.Tyr5261= | |
| ENST00000589042.5:c.42978C>T MANE Select | ENSP00000467141.1:p.Tyr14326= | |
| ENST00000591111.5:c.38055C>T | ENSP00000465570.1:p.Tyr12685= | |
| ENST00000615779.4:c.38055C>T | ENSP00000483597.1:p.Tyr12685= | |
| NM_001256850.1:c.38055C>T | NP_001243779.1:p.Tyr12685= | |
| NM_001267550.2:c.42978C>T MANE Select | NP_001254479.2:p.Tyr14326= | |
| NM_003319.4:c.15783C>T | NP_003310.4:p.Tyr5261= | |
| NM_133378.4:c.35274C>T | NP_596869.4:p.Tyr11758= | |
| NM_133432.3:c.16158C>T | NP_597676.3:p.Tyr5386= | |
| NM_133437.4:c.16359C>T | NP_597681.4:p.Tyr5453= | |
| XM_011511729.1:c.42075C>T | XP_011510031.1:p.Tyr14025= | |
| XM_011511730.1:c.15969C>T | XP_011510032.1:p.Tyr5323= | |
| XM_011511731.1:c.15828C>T | XP_011510033.1:p.Tyr5276= | |
| XM_017004819.1:c.41871C>T | XP_016860308.1:p.Tyr13957= | |
| XM_017004820.1:c.37269C>T | XP_016860309.1:p.Tyr12423= | |
| XM_017004821.1:c.37266C>T | XP_016860310.1:p.Tyr12422= | |
| XM_017004822.1:c.34308C>T | XP_016860311.1:p.Tyr11436= | |
| XM_017004823.1:c.15924C>T | XP_016860312.1:p.Tyr5308= | |
| XM_024453094.1:c.37419C>T | XP_024308862.1:p.Tyr12473= | |
| XM_024453095.1:c.37416C>T | XP_024308863.1:p.Tyr12472= | |
| XM_024453096.1:c.36849C>T | XP_024308864.1:p.Tyr12283= | |
| XM_024453097.1:c.34191C>T | XP_024308865.1:p.Tyr11397= | |
| XM_024453098.1:c.34110C>T | XP_024308866.1:p.Tyr11370= | |
| XM_024453099.1:c.15873C>T | XP_024308867.1:p.Tyr5291= | |
| XM_024453100.1:c.5727C>T | XP_024308868.1:p.Tyr1909= |