Linked Data
ClinVar Variation Id:
1378738
ClinVar RCV Id:
RCV001881307
dbSNP Id:
rs377559449
ExAC:
20:744401 C / G
gnomAD v2:
20-744401-C-G
gnomAD v3:
20-763757-C-G
gnomAD v4:
20-763757-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.763757C>G , CM000682.2:g.763757C>G | GRCh38 |
| NC_000020.10:g.744401C>G , CM000682.1:g.744401C>G | GRCh37 |
| NC_000020.9:g.692401C>G | NCBI36 |
| NG_027687.1:g.9828G>C | |
| NG_027687.2:g.17229G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.814G>C | ENSP00000371370.3:p.Asp272His | |
| ENST00000473664.2:c.567+1451G>C | ENSP00000502741.1:n.567+1451G>C | |
| ENST00000488495.3:c.814G>C | ENSP00000494009.1:p.Asp272His | |
| ENST00000645534.1:c.814G>C MANE Select | ENSP00000494193.1:p.Asp272His | |
| ENST00000675066.1:c.814G>C | ENSP00000501902.1:p.Asp272His | |
| ENST00000217254.11:c.814G>C | ENSP00000217254.7:p.Asp272His | |
| ENST00000381944.4:c.814G>C | ENSP00000371370.3:p.Asp272His | |
| ENST00000473664.1:n.618+1451G>C | ||
| ENST00000632431.1:c.814G>C | ENSP00000488723.1:p.Asp272His | |
| NM_033409.3:c.814G>C | NP_212134.3:p.Asp272His | |
| XM_005260655.3:c.814G>C | XP_005260712.1:p.Asp272His | |
| XM_011529148.1:c.814G>C | XP_011527450.1:p.Asp272His | |
| XM_005260655.4:c.814G>C | XP_005260712.1:p.Asp272His | |
| XM_024451821.1:c.814G>C | XP_024307589.1:p.Asp272His | |
| NM_033409.4:c.814G>C MANE Select | NP_212134.3:p.Asp272His | |
| NM_001370085.1:c.814G>C | NP_001357014.1:p.Asp272His | |
| NM_001370086.1:c.814G>C | NP_001357015.1:p.Asp272His |