Linked Data
ClinVar Variation Id:
2650
dbSNP Id:
rs119455951
gnomAD v2:
1-170508656-G-T
gnomAD v3:
1-170539515-G-T
gnomAD v4:
1-170539515-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.170539515G>T , CM000663.2:g.170539515G>T | GRCh38 |
| NC_000001.10:g.170508656G>T , CM000663.1:g.170508656G>T | GRCh37 |
| NC_000001.9:g.168775280G>T | NCBI36 |
| NG_012237.1:g.12394G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684929.1:n.336G>T | ||
| ENST00000685515.1:c.*231G>T | ENSP00000509073.1:n.*231G>T | |
| ENST00000685976.1:n.472G>T | ||
| ENST00000686135.1:n.1827G>T | ||
| ENST00000686870.1:c.367G>T | ENSP00000510121.1:p.Glu123Ter | |
| ENST00000687370.1:n.3383G>T | ||
| ENST00000687880.1:c.*361G>T | ENSP00000508486.1:n.*361G>T | |
| ENST00000688499.1:c.*231G>T | ENSP00000509581.1:n.*231G>T | |
| ENST00000688688.1:c.316G>T | ENSP00000510426.1:p.Glu106Ter | |
| ENST00000689173.1:c.*361G>T | ENSP00000509341.1:n.*361G>T | |
| ENST00000690124.1:n.531G>T | ||
| ENST00000690898.1:n.556G>T | ||
| ENST00000691199.1:n.191-2976G>T | ||
| ENST00000691235.1:n.139-2976G>T | ||
| ENST00000691574.1:n.401G>T | ||
| ENST00000692234.1:c.*231G>T | ENSP00000508508.1:n.*231G>T | |
| ENST00000692855.1:n.518G>T | ||
| ENST00000692875.1:c.316G>T | ENSP00000508785.1:p.Glu106Ter | |
| ENST00000693173.1:c.*361G>T | ENSP00000510143.1:n.*361G>T | |
| ENST00000693373.1:n.355G>T | ||
| ENST00000367762.2:c.367G>T | ENSP00000356736.2:p.Glu123Ter | |
| ENST00000367763.8:c.367G>T MANE Select | ENSP00000356737.4:p.Glu123Ter | |
| ENST00000498166.6:c.*361G>T | ENSP00000473336.2:n.*361G>T | |
| ENST00000367762.1:c.442G>T | ENSP00000356736.1:p.Glu148Ter | |
| ENST00000367763.7:c.442G>T | ENSP00000356737.3:p.Glu148Ter | |
| ENST00000465717.1:n.453G>T | ||
| ENST00000498166.5:c.740G>T | ||
| ENST00000498600.2:n.454G>T | ||
| NM_001146039.1:c.442G>T | NP_001139511.1:p.Glu148Ter | |
| NM_152281.2:c.442G>T | NP_689494.2:p.Glu148Ter | |
| NR_027397.1:n.469G>T | ||
| XM_006711628.2:c.-103G>T | XP_006711691.1:n.-103G>T | |
| XM_006711629.2:c.-99G>T | XP_006711692.1:n.-99G>T | |
| XM_011510149.1:c.391G>T | XP_011508451.1:p.Glu131Ter | |
| XM_011510150.1:c.-103G>T | XP_011508452.1:n.-103G>T | |
| XM_011510151.1:c.-103G>T | XP_011508453.1:n.-103G>T | |
| NM_001320252.1:c.-99G>T | NP_001307181.1:n.-99G>T | |
| XM_006711628.4:c.-103G>T | XP_006711691.1:n.-103G>T | |
| XM_011510149.2:c.391G>T | XP_011508451.1:p.Glu131Ter | |
| XM_011510150.3:c.-103G>T | XP_011508452.1:n.-103G>T | |
| XM_017002807.1:c.-103G>T | XP_016858296.1:n.-103G>T | |
| XM_024450864.1:c.-99G>T | XP_024306632.1:n.-99G>T | |
| NM_001146039.2:c.367G>T | NP_001139511.2:p.Glu123Ter | |
| NM_001320252.2:c.-99G>T | NP_001307181.1:n.-99G>T | |
| NM_152281.3:c.367G>T MANE Select | NP_689494.3:p.Glu123Ter | |
| NR_027397.2:n.425G>T |