Linked Data
ClinVar Variation Id:
1664688
ClinVar RCV Id:
RCV002191248
dbSNP Id:
rs1730969457
MyVariant Identifiers:
chr4:g.6304021G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302294G>A , CM000666.2:g.6302294G>A | GRCh38 |
| NC_000004.11:g.6304021G>A , CM000666.1:g.6304021G>A | GRCh37 |
| NC_000004.10:g.6354922G>A | NCBI36 |
| NG_011700.1:g.37445G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2535G>A | ENSP00000507852.1:p.Leu845= | |
| ENST00000683395.1:c.2476G>A | ||
| ENST00000684087.1:c.2499G>A | ENSP00000506978.1:p.Leu833= | |
| ENST00000506362.2:c.2250G>A | ENSP00000424103.2:p.Leu750= | |
| ENST00000673991.1:c.2535G>A | ENSP00000501033.1:p.Leu845= | |
| ENST00000226760.5:c.2499G>A MANE Select | ENSP00000226760.1:p.Leu833= | |
| ENST00000503569.5:c.2499G>A | ENSP00000423337.1:p.Leu833= | |
| ENST00000507765.1:n.2684G>A | ||
| NM_001145853.1:c.2499G>A | NP_001139325.1:p.Leu833= | |
| NM_006005.3:c.2499G>A MANE Select | NP_005996.2:p.Leu833= | |
| XM_017008586.1:c.2508G>A | XP_016864075.1:p.Leu836= |