Linked Data
ClinVar Variation Id:
1361605
dbSNP Id:
rs767806305
ExAC:
1:154956533 G / T
gnomAD v2:
1-154956533-G-T
gnomAD v3:
1-154984057-G-T
gnomAD v4:
1-154984057-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154984057G>T , CM000663.2:g.154984057G>T | GRCh38 |
| NC_000001.10:g.154956533G>T , CM000663.1:g.154956533G>T | GRCh37 |
| NC_000001.9:g.153223157G>T | NCBI36 |
| NG_042310.1:g.5764G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.363G>T MANE Select | ENSP00000292180.3:p.Glu121Asp | |
| ENST00000292180.7:c.363G>T | ENSP00000292180.3:p.Glu121Asp | |
| ENST00000315144.14:c.72G>T | ENSP00000317296.10:p.Glu24Asp | |
| ENST00000368431.7:c.-574G>T | ENSP00000357416.3:n.-574G>T | |
| ENST00000368432.5:c.72G>T | ENSP00000357417.1:p.Glu24Asp | |
| ENST00000368433.5:c.363G>T | ENSP00000357418.1:p.Glu121Asp | |
| ENST00000487371.1:n.419G>T | ||
| ENST00000492620.1:n.60+660G>T | ||
| NM_001184891.1:c.72G>T | NP_001171820.1:p.Glu24Asp | |
| NM_001184892.1:c.-574G>T | NP_001171821.1:n.-574G>T | |
| NM_025207.4:c.363G>T | NP_079483.3:p.Glu121Asp | |
| NM_201398.2:c.72G>T | NP_958800.1:p.Glu24Asp | |
| XM_005245502.2:c.72G>T | XP_005245559.1:p.Glu24Asp | |
| XM_005245503.2:c.-430+660G>T | XP_005245560.1:n.-430+660G>T | |
| XM_006711559.2:c.72G>T | XP_006711622.1:p.Glu24Asp | |
| XR_241098.3:n.281G>T | ||
| NM_025207.5:c.363G>T MANE Select | NP_079483.3:p.Glu121Asp | |
| NM_001184891.2:c.72G>T | NP_001171820.1:p.Glu24Asp | |
| NM_001184892.2:c.-574G>T | NP_001171821.1:n.-574G>T | |
| NM_201398.3:c.72G>T | NP_958800.1:p.Glu24Asp |