Linked Data
ClinVar Variation Id:
4279
ClinVar RCV Id:
RCV000004500
dbSNP Id:
rs121908092
gnomAD v4:
15-34342063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34342063G>A , CM000677.2:g.34342063G>A | GRCh38 |
| NC_000015.9:g.34634264G>A , CM000677.1:g.34634264G>A | GRCh37 |
| NC_000015.8:g.32421556G>A | NCBI36 |
| NG_007951.1:g.1002C>T , LRG_270:g.1002C>T | |
| NG_011562.1:g.6099C>T , LRG_345:g.6099C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557912.2:c.55-13C>T | ENSP00000453475.1:n.55-13C>T | |
| ENST00000699926.1:c.103C>T | ENSP00000514692.1:p.Arg35Trp | |
| ENST00000699934.1:c.100C>T | ENSP00000514697.1:p.Arg34Trp | |
| ENST00000699935.1:c.124C>T | ENSP00000514698.1:p.Arg42Trp | |
| ENST00000699936.1:c.34C>T | ENSP00000514699.1:p.Arg12Trp | |
| ENST00000699937.1:c.85C>T | ENSP00000514700.1:p.Arg29Trp | |
| ENST00000699938.1:c.100C>T | ENSP00000514701.1:p.Arg34Trp | |
| ENST00000699939.1:n.260-13C>T | ||
| ENST00000328848.6:c.100C>T MANE Select | ENSP00000332198.5:p.Arg34Trp | |
| ENST00000328848.5:c.100C>T | ENSP00000332198.4:p.Arg34Trp | |
| ENST00000557912.1:c.55-13C>T | ENSP00000453475.1:n.55-13C>T | |
| NM_018648.3:c.100C>T , LRG_345t1:c.100C>T | NP_061118.1:p.Arg34Trp | |
| NM_018648.4:c.100C>T MANE Select | NP_061118.1:p.Arg34Trp |