Linked Data
ClinVar Variation Id:
46972
ClinVar RCV Id:
RCV000040242
RCV000463518
RCV000725048
RCV000852859
RCV001130918
RCV001130920
RCV001130919
RCV001130921
RCV001130917
RCV001171013
RCV002399389
dbSNP Id:
rs181189778
ExAC:
2:179496931 A / T
gnomAD v2:
2-179496931-A-T
gnomAD v3:
2-178632204-A-T
gnomAD v4:
2-178632204-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632204A>T , CM000664.2:g.178632204A>T | GRCh38 |
| NC_000002.11:g.179496931A>T , CM000664.1:g.179496931A>T | GRCh37 |
| NC_000002.10:g.179205176A>T | NCBI36 |
| NG_011618.3:g.203599T>A , LRG_391:g.203599T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35986T>A | ENSP00000343764.6:p.Ser11996Thr | |
| ENST00000342175.11:c.17071T>A | ENSP00000340554.6:p.Ser5691Thr | |
| ENST00000359218.10:c.16870T>A | ENSP00000352154.5:p.Ser5624Thr | |
| ENST00000342175.10:c.17071T>A | ENSP00000340554.6:p.Ser5691Thr | |
| ENST00000342992.10:c.35986T>A | ENSP00000343764.6:p.Ser11996Thr | |
| ENST00000359218.9:c.16870T>A | ENSP00000352154.5:p.Ser5624Thr | |
| ENST00000460472.6:c.16495T>A | ENSP00000434586.1:p.Ser5499Thr | |
| ENST00000589042.5:c.43690T>A MANE Select | ENSP00000467141.1:p.Ser14564Thr | |
| ENST00000591111.5:c.38767T>A | ENSP00000465570.1:p.Ser12923Thr | |
| ENST00000615779.4:c.38767T>A | ENSP00000483597.1:p.Ser12923Thr | |
| NM_001256850.1:c.38767T>A | NP_001243779.1:p.Ser12923Thr | |
| NM_001267550.2:c.43690T>A MANE Select | NP_001254479.2:p.Ser14564Thr | |
| NM_003319.4:c.16495T>A | NP_003310.4:p.Ser5499Thr | |
| NM_133378.4:c.35986T>A | NP_596869.4:p.Ser11996Thr | |
| NM_133432.3:c.16870T>A | NP_597676.3:p.Ser5624Thr | |
| NM_133437.4:c.17071T>A | NP_597681.4:p.Ser5691Thr | |
| XM_011511729.1:c.42787T>A | XP_011510031.1:p.Ser14263Thr | |
| XM_011511730.1:c.16681T>A | XP_011510032.1:p.Ser5561Thr | |
| XM_011511731.1:c.16540T>A | XP_011510033.1:p.Ser5514Thr | |
| XM_017004819.1:c.42583T>A | XP_016860308.1:p.Ser14195Thr | |
| XM_017004820.1:c.37981T>A | XP_016860309.1:p.Ser12661Thr | |
| XM_017004821.1:c.37978T>A | XP_016860310.1:p.Ser12660Thr | |
| XM_017004822.1:c.35020T>A | XP_016860311.1:p.Ser11674Thr | |
| XM_017004823.1:c.16636T>A | XP_016860312.1:p.Ser5546Thr | |
| XM_024453094.1:c.38131T>A | XP_024308862.1:p.Ser12711Thr | |
| XM_024453095.1:c.38128T>A | XP_024308863.1:p.Ser12710Thr | |
| XM_024453096.1:c.37561T>A | XP_024308864.1:p.Ser12521Thr | |
| XM_024453097.1:c.34903T>A | XP_024308865.1:p.Ser11635Thr | |
| XM_024453098.1:c.34822T>A | XP_024308866.1:p.Ser11608Thr | |
| XM_024453099.1:c.16585T>A | XP_024308867.1:p.Ser5529Thr | |
| XM_024453100.1:c.6439T>A | XP_024308868.1:p.Ser2147Thr |