Linked Data
ClinVar Variation Id:
752648
ClinVar RCV Id:
RCV003526000
dbSNP Id:
rs367583060
ExAC:
22:41513366 C / T
gnomAD v2:
22-41513366-C-T
gnomAD v3:
22-41117362-C-T
gnomAD v4:
22-41117362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41117362C>T , CM000684.2:g.41117362C>T | GRCh38 |
| NC_000022.10:g.41513366C>T , CM000684.1:g.41513366C>T | GRCh37 |
| NC_000022.9:g.39843312C>T | NCBI36 |
| NG_009817.1:g.29753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.270C>T | ENSP00000515365.1:p.Ser90= | |
| ENST00000703545.1:c.154C>T | ||
| ENST00000263253.9:c.270C>T MANE Select | ENSP00000263253.7:p.Ser90= | |
| ENST00000674155.1:c.270C>T | ENSP00000501078.1:p.Ser90= | |
| ENST00000263253.8:c.270C>T | ENSP00000263253.7:p.Ser90= | |
| NM_001429.3:c.270C>T | NP_001420.2:p.Ser90= | |
| XM_006724165.2:c.270C>T | XP_006724228.1:p.Ser90= | |
| NM_001362843.1:c.270C>T | NP_001349772.1:p.Ser90= | |
| NM_001429.4:c.270C>T MANE Select | NP_001420.2:p.Ser90= | |
| NM_001362843.2:c.270C>T | NP_001349772.1:p.Ser90= |