Linked Data
ClinVar Variation Id:
1318450
ClinVar RCV Id:
RCV001753225
dbSNP Id:
rs1468892075
gnomAD v3:
4-6301692-G-C
gnomAD v4:
4-6301692-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301692G>C , CM000666.2:g.6301692G>C | GRCh38 |
| NC_000004.11:g.6303419G>C , CM000666.1:g.6303419G>C | GRCh37 |
| NC_000004.10:g.6354320G>C | NCBI36 |
| NG_011700.1:g.36843G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1933G>C | ENSP00000507852.1:p.Val645Leu | |
| ENST00000683395.1:c.1874G>C | ||
| ENST00000684087.1:c.1897G>C | ENSP00000506978.1:p.Val633Leu | |
| ENST00000506362.2:c.1648G>C | ENSP00000424103.2:p.Val550Leu | |
| ENST00000673642.1:c.1556G>C | ENSP00000501242.1:n.1556G>C | |
| ENST00000673991.1:c.1933G>C | ENSP00000501033.1:p.Val645Leu | |
| ENST00000226760.5:c.1897G>C MANE Select | ENSP00000226760.1:p.Val633Leu | |
| ENST00000503569.5:c.1897G>C | ENSP00000423337.1:p.Val633Leu | |
| ENST00000507765.1:n.2082G>C | ||
| NM_001145853.1:c.1897G>C | NP_001139325.1:p.Val633Leu | |
| NM_006005.3:c.1897G>C MANE Select | NP_005996.2:p.Val633Leu | |
| XM_017008586.1:c.1906G>C | XP_016864075.1:p.Val636Leu |