Linked Data
ClinVar Variation Id:
2028291
dbSNP Id:
rs190524661
ExAC:
22:41513628 T / C
gnomAD v2:
22-41513628-T-C
gnomAD v3:
22-41117624-T-C
gnomAD v4:
22-41117624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41117624T>C , CM000684.2:g.41117624T>C | GRCh38 |
| NC_000022.10:g.41513628T>C , CM000684.1:g.41513628T>C | GRCh37 |
| NC_000022.9:g.39843574T>C | NCBI36 |
| NG_009817.1:g.30015T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.532T>C | ENSP00000515365.1:p.Leu178= | |
| ENST00000703545.1:c.416T>C | ||
| ENST00000263253.9:c.532T>C MANE Select | ENSP00000263253.7:p.Leu178= | |
| ENST00000674155.1:c.532T>C | ENSP00000501078.1:p.Leu178= | |
| ENST00000263253.8:c.532T>C | ENSP00000263253.7:p.Leu178= | |
| NM_001429.3:c.532T>C | NP_001420.2:p.Leu178= | |
| XM_006724165.2:c.532T>C | XP_006724228.1:p.Leu178= | |
| NM_001362843.1:c.532T>C | NP_001349772.1:p.Leu178= | |
| NM_001429.4:c.532T>C MANE Select | NP_001420.2:p.Leu178= | |
| NM_001362843.2:c.532T>C | NP_001349772.1:p.Leu178= |