Linked Data
ClinVar Variation Id:
412794
ClinVar RCV Id:
RCV002349994
dbSNP Id:
rs767095274
ExAC:
15:73660063 C / A
gnomAD v2:
15-73660063-C-A
gnomAD v3:
15-73367722-C-A
gnomAD v4:
15-73367722-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367722C>A , CM000677.2:g.73367722C>A | GRCh38 |
| NC_000015.9:g.73660063C>A , CM000677.1:g.73660063C>A | GRCh37 |
| NC_000015.8:g.71447116C>A | NCBI36 |
| NG_009063.1:g.6543G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.549G>T MANE Select | ENSP00000261917.3:p.Ser183= | |
| ENST00000261917.3:c.549G>T | ENSP00000261917.3:p.Ser183= | |
| NM_005477.2:c.549G>T | NP_005468.1:p.Ser183= | |
| NM_005477.3:c.549G>T MANE Select | NP_005468.1:p.Ser183= |