Linked Data
ClinVar Variation Id:
1732918
ClinVar RCV Id:
RCV002339811
dbSNP Id:
rs143431889
ExAC:
15:73614851 C / A
gnomAD v2:
15-73614851-C-A
gnomAD v4:
15-73322510-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322510C>A , CM000677.2:g.73322510C>A | GRCh38 |
| NC_000015.9:g.73614851C>A , CM000677.1:g.73614851C>A | GRCh37 |
| NC_000015.8:g.71401904C>A | NCBI36 |
| NG_009063.1:g.51755G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3583G>T MANE Select | ENSP00000261917.3:p.Val1195Leu | |
| ENST00000261917.3:c.3583G>T | ENSP00000261917.3:p.Val1195Leu | |
| NM_005477.2:c.3583G>T | NP_005468.1:p.Val1195Leu | |
| XM_011521148.1:c.2365G>T | XP_011519450.1:p.Val789Leu | |
| XM_011521148.2:c.2365G>T | XP_011519450.1:p.Val789Leu | |
| NM_005477.3:c.3583G>T MANE Select | NP_005468.1:p.Val1195Leu |