Linked Data
ClinVar Variation Id:
1040816
ClinVar RCV Id:
RCV001344531
dbSNP Id:
rs2042866287
gnomAD v4:
15-73322560-G-A
COSMIC:
COSM4898413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322560G>A , CM000677.2:g.73322560G>A | GRCh38 |
| NC_000015.9:g.73614901G>A , CM000677.1:g.73614901G>A | GRCh37 |
| NC_000015.8:g.71401954G>A | NCBI36 |
| NG_009063.1:g.51705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3533C>T MANE Select | ENSP00000261917.3:p.Pro1178Leu | |
| ENST00000261917.3:c.3533C>T | ENSP00000261917.3:p.Pro1178Leu | |
| NM_005477.2:c.3533C>T | NP_005468.1:p.Pro1178Leu | |
| XM_011521148.1:c.2315C>T | XP_011519450.1:p.Pro772Leu | |
| XM_011521148.2:c.2315C>T | XP_011519450.1:p.Pro772Leu | |
| NM_005477.3:c.3533C>T MANE Select | NP_005468.1:p.Pro1178Leu |