Linked Data
ClinVar Variation Id:
1896614
ClinVar RCV Id:
RCV002575873
dbSNP Id:
rs1989917754
gnomAD v4:
20-33417918-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33417918A>G , CM000682.2:g.33417918A>G | GRCh38 |
| NC_000020.10:g.32005724A>G , CM000682.1:g.32005724A>G | GRCh37 |
| NC_000020.9:g.31469385A>G | NCBI36 |
| NG_011622.1:g.30975T>C , LRG_332:g.30975T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.502T>C MANE Select | ENSP00000217381.2:p.Tyr168His | |
| ENST00000217381.2:c.502T>C | ENSP00000217381.2:p.Tyr168His | |
| NM_003098.2:c.502T>C , LRG_332t1:c.502T>C | NP_003089.1:p.Tyr168His | |
| XM_005260517.1:c.502T>C | XP_005260574.1:p.Tyr168His | |
| XM_011529007.1:c.502T>C | XP_011527309.1:p.Tyr168His | |
| XM_011529008.1:c.502T>C | XP_011527310.1:p.Tyr168His | |
| XR_936612.1:n.735T>C | ||
| XM_024451971.1:c.175T>C | XP_024307739.1:p.Tyr59His | |
| NM_003098.3:c.502T>C MANE Select | NP_003089.1:p.Tyr168His |