Linked Data
ClinVar Variation Id:
370775
ClinVar RCV Id:
RCV000411828
dbSNP Id:
rs747809412
ExAC:
4:52899755 T / A
gnomAD v2:
4-52899755-T-A
gnomAD v3:
4-52033589-T-A
gnomAD v4:
4-52033589-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033589T>A , CM000666.2:g.52033589T>A | GRCh38 |
| NC_000004.11:g.52899755T>A , CM000666.1:g.52899755T>A | GRCh37 |
| NC_000004.10:g.52594512T>A | NCBI36 |
| NG_008891.1:g.9731A>T , LRG_204:g.9731A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.85A>T MANE Select | ENSP00000370839.6:p.Arg29Ter | |
| ENST00000381431.9:c.85A>T | ENSP00000370839.5:p.Arg29Ter | |
| ENST00000506357.5:c.71A>T | ||
| ENST00000514133.1:c.52A>T | ENSP00000425818.1:p.Arg18Ter | |
| NM_000232.4:c.85A>T , LRG_204t1:c.85A>T | NP_000223.1:p.Arg29Ter | |
| XM_011534403.1:c.34-3726A>T | XP_011532705.1:n.34-3726A>T | |
| NM_000232.5:c.85A>T MANE Select | NP_000223.1:p.Arg29Ter |