Linked Data
ClinVar Variation Id:
1385984
ClinVar RCV Id:
RCV001889101
dbSNP Id:
rs780977563
gnomAD v4:
15-73322507-G-T
COSMIC:
COSM401574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322507G>T , CM000677.2:g.73322507G>T | GRCh38 |
| NC_000015.9:g.73614848G>T , CM000677.1:g.73614848G>T | GRCh37 |
| NC_000015.8:g.71401901G>T | NCBI36 |
| NG_009063.1:g.51758C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3586C>A MANE Select | ENSP00000261917.3:p.Arg1196Ser | |
| ENST00000261917.3:c.3586C>A | ENSP00000261917.3:p.Arg1196Ser | |
| NM_005477.2:c.3586C>A | NP_005468.1:p.Arg1196Ser | |
| XM_011521148.1:c.2368C>A | XP_011519450.1:p.Arg790Ser | |
| XM_011521148.2:c.2368C>A | XP_011519450.1:p.Arg790Ser | |
| NM_005477.3:c.3586C>A MANE Select | NP_005468.1:p.Arg1196Ser |