Linked Data
ClinVar Variation Id:
1422348
ClinVar RCV Id:
RCV001919492
dbSNP Id:
rs755176736
ExAC:
4:6292944 C / T
gnomAD v2:
4-6292944-C-T
gnomAD v4:
4-6291217-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291217C>T , CM000666.2:g.6291217C>T | GRCh38 |
| NC_000004.11:g.6292944C>T , CM000666.1:g.6292944C>T | GRCh37 |
| NC_000004.10:g.6343845C>T | NCBI36 |
| NG_011700.1:g.26368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.481C>T | ENSP00000507852.1:p.Arg161Trp | |
| ENST00000683395.1:c.471C>T | ||
| ENST00000684087.1:c.481C>T | ENSP00000506978.1:p.Arg161Trp | |
| ENST00000684700.1:c.481C>T | ENSP00000507806.1:p.Arg161Trp | |
| ENST00000506362.2:c.232C>T | ENSP00000424103.2:p.Arg78Trp | |
| ENST00000673642.1:c.280C>T | ENSP00000501242.1:p.Arg94Trp | |
| ENST00000673991.1:c.481C>T | ENSP00000501033.1:p.Arg161Trp | |
| ENST00000674051.1:c.355C>T | ENSP00000501083.1:p.Arg119Trp | |
| ENST00000226760.5:c.481C>T MANE Select | ENSP00000226760.1:p.Arg161Trp | |
| ENST00000503569.5:c.481C>T | ENSP00000423337.1:p.Arg161Trp | |
| ENST00000506362.1:c.78C>T | ||
| ENST00000507765.1:n.666C>T | ||
| NM_001145853.1:c.481C>T | NP_001139325.1:p.Arg161Trp | |
| NM_006005.3:c.481C>T MANE Select | NP_005996.2:p.Arg161Trp | |
| XM_017008586.1:c.490C>T | XP_016864075.1:p.Arg164Trp |