Linked Data
ClinVar Variation Id:
1722804
ClinVar RCV Id:
RCV002305911
dbSNP Id:
rs1560516385
gnomAD v4:
4-67740599-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740599A>G , CM000666.2:g.67740599A>G | GRCh38 |
| NC_000004.11:g.68606317A>G , CM000666.1:g.68606317A>G | GRCh37 |
| NC_000004.10:g.68288912A>G | NCBI36 |
| NG_009293.1:g.20488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.868T>C MANE Select | ENSP00000226413.5:p.Tyr290His | |
| ENST00000226413.4:c.868T>C | ENSP00000226413.4:p.Tyr290His | |
| ENST00000420975.2:c.740T>C | ENSP00000397561.2:p.Val247Ala | |
| NM_000406.2:c.868T>C | NP_000397.1:p.Tyr290His | |
| NM_001012763.1:c.740T>C | NP_001012781.1:p.Val247Ala | |
| NM_000406.3:c.868T>C MANE Select | NP_000397.1:p.Tyr290His | |
| NM_001012763.2:c.740T>C | NP_001012781.1:p.Val247Ala |