Linked Data
ClinVar Variation Id:
2565008
ClinVar RCV Id:
RCV003297364
dbSNP Id:
rs1205818947
gnomAD v2:
15-73615369-C-A
gnomAD v3:
15-73323028-C-A
gnomAD v4:
15-73323028-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323028C>A , CM000677.2:g.73323028C>A | GRCh38 |
| NC_000015.9:g.73615369C>A , CM000677.1:g.73615369C>A | GRCh37 |
| NC_000015.8:g.71402422C>A | NCBI36 |
| NG_009063.1:g.51237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3065G>T MANE Select | ENSP00000261917.3:p.Arg1022Leu | |
| ENST00000261917.3:c.3065G>T | ENSP00000261917.3:p.Arg1022Leu | |
| NM_005477.2:c.3065G>T | NP_005468.1:p.Arg1022Leu | |
| XM_011521148.1:c.1847G>T | XP_011519450.1:p.Arg616Leu | |
| XM_011521148.2:c.1847G>T | XP_011519450.1:p.Arg616Leu | |
| NM_005477.3:c.3065G>T MANE Select | NP_005468.1:p.Arg1022Leu |