Linked Data
ClinVar Variation Id:
284797
dbSNP Id:
rs749356221
ExAC:
2:179500892 G / A
gnomAD v2:
2-179500892-G-A
gnomAD v3:
2-178636165-G-A
gnomAD v4:
2-178636165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636165G>A , CM000664.2:g.178636165G>A | GRCh38 |
| NC_000002.11:g.179500892G>A , CM000664.1:g.179500892G>A | GRCh37 |
| NC_000002.10:g.179209137G>A | NCBI36 |
| NG_011618.3:g.199638C>T , LRG_391:g.199638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33702C>T | ENSP00000343764.6:p.Cys11234= | |
| ENST00000342175.11:c.14787C>T | ENSP00000340554.6:p.Cys4929= | |
| ENST00000359218.10:c.14586C>T | ENSP00000352154.5:p.Cys4862= | |
| ENST00000342175.10:c.14787C>T | ENSP00000340554.6:p.Cys4929= | |
| ENST00000342992.10:c.33702C>T | ENSP00000343764.6:p.Cys11234= | |
| ENST00000359218.9:c.14586C>T | ENSP00000352154.5:p.Cys4862= | |
| ENST00000460472.6:c.14211C>T | ENSP00000434586.1:p.Cys4737= | |
| ENST00000589042.5:c.41406C>T MANE Select | ENSP00000467141.1:p.Cys13802= | |
| ENST00000591111.5:c.36483C>T | ENSP00000465570.1:p.Cys12161= | |
| ENST00000615779.4:c.36483C>T | ENSP00000483597.1:p.Cys12161= | |
| NM_001256850.1:c.36483C>T | NP_001243779.1:p.Cys12161= | |
| NM_001267550.2:c.41406C>T MANE Select | NP_001254479.2:p.Cys13802= | |
| NM_003319.4:c.14211C>T | NP_003310.4:p.Cys4737= | |
| NM_133378.4:c.33702C>T | NP_596869.4:p.Cys11234= | |
| NM_133432.3:c.14586C>T | NP_597676.3:p.Cys4862= | |
| NM_133437.4:c.14787C>T | NP_597681.4:p.Cys4929= | |
| XM_011511729.1:c.40503C>T | XP_011510031.1:p.Cys13501= | |
| XM_011511730.1:c.14397C>T | XP_011510032.1:p.Cys4799= | |
| XM_011511731.1:c.14256C>T | XP_011510033.1:p.Cys4752= | |
| XM_017004819.1:c.40299C>T | XP_016860308.1:p.Cys13433= | |
| XM_017004820.1:c.35697C>T | XP_016860309.1:p.Cys11899= | |
| XM_017004821.1:c.35694C>T | XP_016860310.1:p.Cys11898= | |
| XM_017004822.1:c.32736C>T | XP_016860311.1:p.Cys10912= | |
| XM_017004823.1:c.14352C>T | XP_016860312.1:p.Cys4784= | |
| XM_024453094.1:c.35847C>T | XP_024308862.1:p.Cys11949= | |
| XM_024453095.1:c.35844C>T | XP_024308863.1:p.Cys11948= | |
| XM_024453096.1:c.35277C>T | XP_024308864.1:p.Cys11759= | |
| XM_024453097.1:c.32619C>T | XP_024308865.1:p.Cys10873= | |
| XM_024453098.1:c.32538C>T | XP_024308866.1:p.Cys10846= | |
| XM_024453099.1:c.14301C>T | XP_024308867.1:p.Cys4767= | |
| XM_024453100.1:c.4155C>T | XP_024308868.1:p.Cys1385= |