Linked Data
ClinVar Variation Id:
2960020
ClinVar RCV Id:
RCV003814780
dbSNP Id:
rs1434346021
gnomAD v2:
5-35867550-G-C
gnomAD v4:
5-35867448-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867448G>C , CM000667.2:g.35867448G>C | GRCh38 |
| NC_000005.9:g.35867550G>C , CM000667.1:g.35867550G>C | GRCh37 |
| NC_000005.8:g.35903307G>C | NCBI36 |
| NG_009567.1:g.15560G>C , LRG_74:g.15560G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.364G>C MANE Select | ENSP00000306157.3:p.Asp122His | |
| ENST00000303115.7:c.364G>C | ENSP00000306157.3:p.Asp122His | |
| ENST00000506850.5:c.364G>C | ENSP00000421207.1:p.Asp122His | |
| ENST00000511031.1:n.498G>C | ||
| ENST00000511982.1:c.364G>C | ENSP00000425309.1:p.Asp122His | |
| ENST00000514217.5:c.364G>C | ENSP00000427688.1:p.Asp122His | |
| NM_002185.3:c.364G>C | NP_002176.2:p.Asp122His | |
| NR_120485.1:n.467G>C | ||
| XM_005248299.2:c.364G>C | XP_005248356.1:p.Asp122His | |
| XM_005248300.1:c.364G>C | XP_005248357.1:p.Asp122His | |
| XM_011514037.1:c.364G>C | XP_011512339.1:p.Asp122His | |
| NM_002185.4:c.364G>C | NP_002176.2:p.Asp122His | |
| NR_120485.2:n.493G>C | ||
| XM_005248299.4:c.364G>C | XP_005248356.1:p.Asp122His | |
| NM_002185.5:c.364G>C MANE Select | NP_002176.2:p.Asp122His | |
| NR_120485.3:n.451G>C |