Linked Data
ClinVar Variation Id:
2766331
ClinVar RCV Id:
RCV003580232
gnomAD v4:
15-43048422-T-C
MyVariant Identifiers:
chr15:g.43340620T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43048422T>C , CM000677.2:g.43048422T>C | GRCh38 |
| NC_000015.9:g.43340620T>C , CM000677.1:g.43340620T>C | GRCh37 |
| NC_000015.8:g.41127912T>C | NCBI36 |
| NG_012182.1:g.62667A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.1509A>G MANE Select | ENSP00000290650.4:p.Arg503= | |
| ENST00000290650.8:c.1509A>G | ENSP00000290650.4:p.Arg503= | |
| ENST00000546274.6:c.1509A>G | ENSP00000477932.1:p.Arg503= | |
| ENST00000563239.1:c.*203-1133A>G | ENSP00000456502.1:n.*203-1133A>G | |
| ENST00000569971.5:c.380A>G | ENSP00000455759.1:n.380A>G | |
| NM_174916.2:c.1509A>G | NP_777576.1:p.Arg503= | |
| NM_174916.3:c.1509A>G MANE Select | NP_777576.1:p.Arg503= |