Linked Data
ClinVar Variation Id:
1940195
ClinVar RCV Id:
RCV002639222
dbSNP Id:
rs201783302
ExAC:
20:39317202 G / A
gnomAD v2:
20-39317202-G-A
gnomAD v3:
20-40688562-G-A
gnomAD v4:
20-40688562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40688562G>A , CM000682.2:g.40688562G>A | GRCh38 |
| NC_000020.10:g.39317202G>A , CM000682.1:g.39317202G>A | GRCh37 |
| NC_000020.9:g.38750616G>A | NCBI36 |
| NG_023378.1:g.5675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373313.3:c.289C>T MANE Select | ENSP00000362410.2:p.Pro97Ser | |
| ENST00000373313.2:c.289C>T | ENSP00000362410.2:p.Pro97Ser | |
| NM_005461.4:c.289C>T | NP_005452.2:p.Pro97Ser | |
| NM_005461.5:c.289C>T MANE Select | NP_005452.2:p.Pro97Ser |