Linked Data
ClinVar Variation Id:
2890396
ClinVar RCV Id:
RCV003638466
dbSNP Id:
rs766451204
ExAC:
22:41547887 T / C
gnomAD v2:
22-41547887-T-C
gnomAD v4:
22-41151883-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41151883T>C , CM000684.2:g.41151883T>C | GRCh38 |
| NC_000022.10:g.41547887T>C , CM000684.1:g.41547887T>C | GRCh37 |
| NC_000022.9:g.39877833T>C | NCBI36 |
| NG_009817.1:g.64274T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*788T>C | ENSP00000515365.1:n.*788T>C | |
| ENST00000703545.1:c.2658T>C | ||
| ENST00000263253.9:c.2868T>C MANE Select | ENSP00000263253.7:p.Ser956= | |
| ENST00000674155.1:c.2790T>C | ENSP00000501078.1:p.Ser930= | |
| ENST00000263253.8:c.2868T>C | ENSP00000263253.7:p.Ser956= | |
| NM_001429.3:c.2868T>C | NP_001420.2:p.Ser956= | |
| XM_006724165.2:c.2790T>C | XP_006724228.1:p.Ser930= | |
| NM_001362843.1:c.2790T>C | NP_001349772.1:p.Ser930= | |
| NM_001429.4:c.2868T>C MANE Select | NP_001420.2:p.Ser956= | |
| NM_001362843.2:c.2790T>C | NP_001349772.1:p.Ser930= |