Linked Data
ClinVar Variation Id:
1503933
ClinVar RCV Id:
RCV002047668
dbSNP Id:
rs771885867
ExAC:
4:4864808 C / T
gnomAD v2:
4-4864808-C-T
gnomAD v3:
4-4863081-C-T
gnomAD v4:
4-4863081-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863081C>T , CM000666.2:g.4863081C>T | GRCh38 |
| NC_000004.11:g.4864808C>T , CM000666.1:g.4864808C>T | GRCh37 |
| NC_000004.10:g.4915709C>T | NCBI36 |
| NG_008121.1:g.8417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.850C>T MANE Select | ENSP00000372170.4:p.Pro284Ser | |
| ENST00000382723.4:c.850C>T | ENSP00000372170.4:p.Pro284Ser | |
| NM_002448.3:c.850C>T MANE Select | NP_002439.2:p.Pro284Ser |