Linked Data
ClinVar Variation Id:
1372218
dbSNP Id:
rs933567080
gnomAD v2:
4-107037470-G-T
gnomAD v3:
4-106116313-G-T
gnomAD v4:
4-106116313-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106116313G>T , CM000666.2:g.106116313G>T | GRCh38 |
| NC_000004.11:g.107037470G>T , CM000666.1:g.107037470G>T | GRCh37 |
| NC_000004.10:g.107256919G>T | NCBI36 |
| NG_034057.2:g.210183C>A | |
| NG_034057.3:g.205371C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273980.10:c.2301C>A | ENSP00000273980.4:p.Asp767Glu | |
| ENST00000394708.7:c.2301C>A MANE Select | ENSP00000378198.2:p.Asp767Glu | |
| ENST00000273980.9:c.2301C>A | ENSP00000273980.4:p.Asp767Glu | |
| ENST00000361687.8:c.2112C>A | ENSP00000355338.4:p.Asp704Glu | |
| ENST00000394706.7:c.2184C>A | ENSP00000378196.3:p.Asp728Glu | |
| ENST00000394708.6:c.2301C>A | ENSP00000378198.2:p.Asp767Glu | |
| ENST00000432496.6:c.2301C>A | ENSP00000405847.2:p.Asp767Glu | |
| ENST00000467183.6:c.*1940C>A | ENSP00000421182.1:n.*1940C>A | |
| ENST00000510927.5:n.1954C>A | ||
| ENST00000514689.5:n.593C>A | ||
| NM_001163435.2:c.2301C>A | NP_001156907.1:p.Asp767Glu | |
| NM_001163436.2:c.2301C>A | NP_001156908.1:p.Asp767Glu | |
| NM_001163437.2:c.2184C>A | NP_001156909.1:p.Asp728Glu | |
| NM_001290768.1:c.1785C>A | NP_001277697.1:p.Asp595Glu | |
| NM_033115.4:c.2112C>A | NP_149106.2:p.Asp704Glu | |
| XM_011532417.1:c.2301C>A | XP_011530719.1:p.Asp767Glu | |
| XM_011532418.1:c.1983C>A | XP_011530720.1:p.Asp661Glu | |
| XM_011532419.1:c.1785C>A | XP_011530721.1:p.Asp595Glu | |
| XM_011532417.2:c.2301C>A | XP_011530719.1:p.Asp767Glu | |
| XM_017008846.1:c.2301C>A | XP_016864335.1:p.Asp767Glu | |
| XM_017008847.2:c.2301C>A | XP_016864336.1:p.Asp767Glu | |
| XM_017008848.1:c.1983C>A | XP_016864337.1:p.Asp661Glu | |
| XM_017008849.1:c.1785C>A | XP_016864338.1:p.Asp595Glu | |
| XM_024454281.1:c.2301C>A | XP_024310049.1:p.Asp767Glu | |
| XM_024454282.1:c.2301C>A | XP_024310050.1:p.Asp767Glu | |
| XR_002959772.1:n.2495C>A | ||
| NM_001163435.3:c.2301C>A MANE Select | NP_001156907.2:p.Asp767Glu | |
| NM_001163436.4:c.2301C>A | NP_001156908.2:p.Asp767Glu | |
| NM_001163437.3:c.2184C>A | NP_001156909.2:p.Asp728Glu | |
| NM_001290768.2:c.1785C>A | NP_001277697.2:p.Asp595Glu | |
| NM_033115.5:c.2112C>A | NP_149106.3:p.Asp704Glu |