Linked Data
ClinVar Variation Id:
1529887
ClinVar RCV Id:
RCV002080119
dbSNP Id:
rs11544246
ExAC:
20:44540045 T / C
gnomAD v2:
20-44540045-T-C
gnomAD v3:
20-45911406-T-C
gnomAD v4:
20-45911406-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45911406T>C , CM000682.2:g.45911406T>C | GRCh38 |
| NC_000020.10:g.44540045T>C , CM000682.1:g.44540045T>C | GRCh37 |
| NC_000020.9:g.43973452T>C | NCBI36 |
| NG_012115.1:g.5742A>G | |
| NG_012115.2:g.5742A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372431.8:c.47A>G MANE Select | ENSP00000361508.3:p.His16Arg | |
| ENST00000354050.8:c.47A>G | ENSP00000335290.4:p.His16Arg | |
| ENST00000372431.7:c.47A>G | ENSP00000361508.3:p.His16Arg | |
| ENST00000420868.2:c.47A>G | ENSP00000411671.2:p.His16Arg | |
| ENST00000477313.5:c.47A>G | ENSP00000417138.1:p.His16Arg | |
| NM_001242920.1:c.47A>G | NP_001229849.1:p.His16Arg | |
| NM_006227.3:c.47A>G | NP_006218.1:p.His16Arg | |
| NM_182676.2:c.47A>G | NP_872617.1:p.His16Arg | |
| NM_006227.4:c.47A>G MANE Select | NP_006218.1:p.His16Arg | |
| NM_001242920.2:c.47A>G | NP_001229849.1:p.His16Arg | |
| NM_182676.3:c.47A>G | NP_872617.1:p.His16Arg |