Linked Data
ClinVar Variation Id:
45667
ClinVar RCV Id:
RCV002054721
dbSNP Id:
rs140043085
ExAC:
9:117168786 C / T
gnomAD v2:
9-117168786-C-T
gnomAD v3:
9-114406506-C-T
gnomAD v4:
9-114406506-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406506C>T , CM000671.2:g.114406506C>T | GRCh38 |
| NC_000009.11:g.117168786C>T , CM000671.1:g.117168786C>T | GRCh37 |
| NC_000009.10:g.116208607C>T | NCBI36 |
| NG_016700.1:g.103951G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699485.1:c.429G>A | ENSP00000514396.1:p.Glu143= | |
| ENST00000362057.4:c.2085G>A MANE Select | ENSP00000354623.3:p.Glu695= | |
| ENST00000674036.8:c.1058G>A | ||
| ENST00000674048.1:n.1966G>A | ||
| ENST00000265134.10:c.936G>A | ENSP00000265134.6:p.Glu312= | |
| ENST00000362057.3:c.2085G>A | ENSP00000354623.3:p.Glu695= | |
| ENST00000374059.7:c.1032G>A | ENSP00000363172.3:p.Glu344= | |
| NM_001083885.2:c.936G>A | NP_001077354.2:p.Glu312= | |
| NM_001173425.1:c.2085G>A | NP_001166896.1:p.Glu695= | |
| NM_015404.3:c.2085G>A | NP_056219.3:p.Glu695= | |
| XM_005251897.3:c.1422G>A | XP_005251954.2:p.Glu474= | |
| XM_011518484.1:c.2118G>A | XP_011516786.1:p.Glu706= | |
| XM_011518485.1:c.2118G>A | XP_011516787.1:p.Glu706= | |
| XM_011518486.1:c.2118G>A | XP_011516788.1:p.Glu706= | |
| XM_011518487.1:c.1992G>A | XP_011516789.1:p.Glu664= | |
| XM_011518488.1:c.1875G>A | XP_011516790.1:p.Glu625= | |
| XM_011518495.1:c.795G>A | XP_011516797.1:p.Glu265= | |
| XR_929747.1:n.3022G>A | ||
| XR_929748.1:n.2920G>A | ||
| NM_001346890.1:c.1032G>A | NP_001333819.1:p.Glu344= | |
| XM_011518486.2:c.2118G>A | XP_011516788.1:p.Glu706= | |
| XM_011518487.2:c.1992G>A | XP_011516789.1:p.Glu664= | |
| XM_011518488.2:c.1875G>A | XP_011516790.1:p.Glu625= | |
| XR_929747.2:n.2333G>A | ||
| XR_929748.2:n.2231G>A | ||
| NM_015404.4:c.2085G>A MANE Select | NP_056219.3:p.Glu695= | |
| NM_001173425.2:c.2085G>A | NP_001166896.1:p.Glu695= | |
| NM_001083885.3:c.936G>A | NP_001077354.2:p.Glu312= |