Linked Data
ClinVar Variation Id:
2078892
ClinVar RCV Id:
RCV002995063
dbSNP Id:
rs1435371753
gnomAD v4:
15-73343574-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343574G>A , CM000677.2:g.73343574G>A | GRCh38 |
| NC_000015.9:g.73635915G>A , CM000677.1:g.73635915G>A | GRCh37 |
| NC_000015.8:g.71422968G>A | NCBI36 |
| NG_009063.1:g.30691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1020C>T MANE Select | ENSP00000261917.3:p.Ser340= | |
| ENST00000261917.3:c.1020C>T | ENSP00000261917.3:p.Ser340= | |
| NM_005477.2:c.1020C>T | NP_005468.1:p.Ser340= | |
| NM_005477.3:c.1020C>T MANE Select | NP_005468.1:p.Ser340= |