Linked Data
ClinVar Variation Id:
2429406
ClinVar RCV Id:
RCV003126343
dbSNP Id:
rs1242426163
gnomAD v3:
4-55359380-T-C
gnomAD v4:
4-55359380-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55359380T>C , CM000666.2:g.55359380T>C | GRCh38 |
| NC_000004.11:g.56225547T>C , CM000666.1:g.56225547T>C | GRCh37 |
| NC_000004.10:g.55920304T>C | NCBI36 |
| NG_028230.1:g.18160T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.256T>C MANE Select | ENSP00000264228.4:p.Trp86Arg | |
| ENST00000678717.1:n.153T>C | ||
| ENST00000679351.1:c.256T>C | ENSP00000505676.1:p.Trp86Arg | |
| ENST00000679707.1:c.256T>C | ENSP00000505713.1:p.Trp86Arg | |
| ENST00000679836.1:c.256T>C | ENSP00000506601.1:p.Trp86Arg | |
| ENST00000680700.1:c.256T>C | ENSP00000504926.1:p.Trp86Arg | |
| ENST00000264228.8:c.256T>C | ENSP00000264228.4:p.Trp86Arg | |
| ENST00000505210.1:c.181T>C | ENSP00000424714.1:p.Trp61Arg | |
| ENST00000514398.1:n.265T>C | ||
| NM_024592.4:c.256T>C | NP_078868.1:p.Trp86Arg | |
| XM_005265766.2:c.256T>C | XP_005265823.1:p.Trp86Arg | |
| XM_005265767.2:c.256T>C | XP_005265824.1:p.Trp86Arg | |
| XM_005265766.4:c.256T>C | XP_005265823.1:p.Trp86Arg | |
| XM_005265767.3:c.256T>C | XP_005265824.1:p.Trp86Arg | |
| XM_017008601.1:c.121T>C | XP_016864090.1:p.Trp41Arg | |
| NM_024592.5:c.256T>C MANE Select | NP_078868.1:p.Trp86Arg |