Linked Data
ClinVar Variation Id:
2271067
ClinVar RCV Id:
RCV002809939
dbSNP Id:
rs753737755
ExAC:
1:156837999 C / G
gnomAD v2:
1-156837999-C-G
gnomAD v4:
1-156868207-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156868207C>G , CM000663.2:g.156868207C>G | GRCh38 |
| NC_000001.10:g.156837999C>G , CM000663.1:g.156837999C>G | GRCh37 |
| NC_000001.9:g.155104623C>G | NCBI36 |
| NG_007493.1:g.57458C>G , LRG_261:g.57458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.370C>G | ENSP00000502725.1:p.His124Asp | |
| ENST00000392302.7:c.370C>G | ENSP00000376120.3:p.His124Asp | |
| ENST00000497019.7:c.370C>G | ENSP00000436804.2:p.His124Asp | |
| ENST00000524377.7:c.532C>G MANE Select | ENSP00000431418.1:p.His178Asp | |
| ENST00000674537.1:c.370C>G | ENSP00000502725.1:p.His124Asp | |
| ENST00000358660.3:c.532C>G | ENSP00000351486.3:p.His178Asp | |
| ENST00000368196.7:c.532C>G | ENSP00000357179.3:p.His178Asp | |
| ENST00000392302.6:c.442C>G | ENSP00000376120.2:p.His148Asp | |
| ENST00000489021.6:n.313-5426C>G | ||
| ENST00000497019.6:c.442C>G | ENSP00000436804.1:p.His148Asp | |
| ENST00000524377.5:c.532C>G | ENSP00000431418.1:p.His178Asp | |
| ENST00000530298.5:n.590C>G | ||
| NM_001007792.1:c.442C>G , LRG_261t1:c.442C>G | NP_001007793.1:p.His148Asp | |
| NM_001012331.1:c.532C>G , LRG_261t2:c.532C>G | NP_001012331.1:p.His178Asp | |
| NM_002529.3:c.532C>G , LRG_261t3:c.532C>G | NP_002520.2:p.His178Asp | |
| NM_001012331.2:c.532C>G | NP_001012331.1:p.His178Asp | |
| NM_002529.4:c.532C>G MANE Select | NP_002520.2:p.His178Asp |