Linked Data
ClinVar Variation Id:
2771760
ClinVar RCV Id:
RCV003574420
gnomAD v4:
5-33951615-T-C
MyVariant Identifiers:
chr5:g.33951720T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33951615T>C , CM000667.2:g.33951615T>C | GRCh38 |
| NC_000005.9:g.33951720T>C , CM000667.1:g.33951720T>C | GRCh37 |
| NC_000005.8:g.33987477T>C | NCBI36 |
| NG_011691.2:g.38061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1095A>G MANE Select | ENSP00000296589.4:p.Arg365= | |
| ENST00000296589.8:c.1095A>G | ENSP00000296589.4:p.Arg365= | |
| ENST00000382102.7:c.1095A>G | ENSP00000371534.3:p.Arg365= | |
| ENST00000509381.1:c.*37A>G | ENSP00000421100.1:n.*37A>G | |
| ENST00000510600.1:c.570A>G | ENSP00000424010.1:p.Arg190= | |
| NM_001012509.3:c.1095A>G | NP_001012527.1:p.Arg365= | |
| NM_001297417.2:c.*37A>G | NP_001284346.2:n.*37A>G | |
| NM_016180.4:c.1095A>G | NP_057264.3:p.Arg365= | |
| XM_011514051.1:c.693A>G | XP_011512353.1:p.Arg231= | |
| XR_925620.1:n.1912A>G | ||
| NM_016180.5:c.1095A>G MANE Select | NP_057264.4:p.Arg365= | |
| NM_001012509.4:c.1095A>G | NP_001012527.2:p.Arg365= | |
| NM_001297417.3:c.*37A>G | NP_001284346.2:n.*37A>G | |
| NM_001297417.4:c.*37A>G | NP_001284346.2:n.*37A>G |