Linked Data
ClinVar Variation Id:
2343906
ClinVar RCV Id:
RCV004186094
dbSNP Id:
rs199677367
ExAC:
20:48522625 T / C
gnomAD v2:
20-48522625-T-C
gnomAD v3:
20-49906088-T-C
gnomAD v4:
20-49906088-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49906088T>C , CM000682.2:g.49906088T>C | GRCh38 |
| NC_000020.10:g.48522625T>C , CM000682.1:g.48522625T>C | GRCh37 |
| NC_000020.9:g.47956032T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289431.10:c.1094A>G MANE Select | ENSP00000289431.5:p.His365Arg | |
| ENST00000289431.9:c.1094A>G | ENSP00000289431.5:p.His365Arg | |
| ENST00000422556.1:c.1094A>G | ENSP00000416799.1:p.His365Arg | |
| NM_001135773.1:c.1094A>G | NP_001129245.1:p.His365Arg | |
| NM_006038.3:c.1094A>G | NP_006029.1:p.His365Arg | |
| XM_006723894.1:c.1094A>G | XP_006723957.1:p.His365Arg | |
| XM_011529116.1:c.1094A>G | XP_011527418.1:p.His365Arg | |
| NM_006038.4:c.1094A>G MANE Select | NP_006029.1:p.His365Arg | |
| NM_001135773.2:c.1094A>G | NP_001129245.1:p.His365Arg |