Linked Data
ClinVar Variation Id:
1961470
ClinVar RCV Id:
RCV002691247
gnomAD v4:
5-179833619-A-T
MyVariant Identifiers:
chr5:g.179260619A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179833619A>T , CM000667.2:g.179833619A>T | GRCh38 |
| NC_000005.9:g.179260619A>T , CM000667.1:g.179260619A>T | GRCh37 |
| NC_000005.8:g.179193225A>T | NCBI36 |
| NG_011342.1:g.32232A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.1002A>T MANE Select | ENSP00000374455.4:p.Gly334= | |
| ENST00000360718.5:c.750A>T | ENSP00000353944.5:p.Gly250= | |
| ENST00000389805.8:c.1002A>T | ENSP00000374455.4:p.Gly334= | |
| ENST00000510187.5:c.950+392A>T | ENSP00000424477.1:n.950+392A>T | |
| NM_001142298.1:c.750A>T | NP_001135770.1:p.Gly250= | |
| NM_001142299.1:c.750A>T | NP_001135771.1:p.Gly250= | |
| NM_003900.4:c.1002A>T | NP_003891.1:p.Gly334= | |
| XM_017010010.1:c.750A>T | XP_016865499.1:p.Gly250= | |
| NM_003900.5:c.1002A>T MANE Select | NP_003891.1:p.Gly334= | |
| NM_001142298.2:c.750A>T | NP_001135770.1:p.Gly250= | |
| NM_001142299.2:c.750A>T | NP_001135771.1:p.Gly250= |