Linked Data
ClinVar Variation Id:
1125279
ClinVar RCV Id:
RCV001456976
dbSNP Id:
rs1449442041
gnomAD v2:
22-50307348-A-G
gnomAD v3:
22-49913700-A-G
gnomAD v4:
22-49913700-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913700A>G , CM000684.2:g.49913700A>G | GRCh38 |
| NC_000022.10:g.50307348A>G , CM000684.1:g.50307348A>G | GRCh37 |
| NC_000022.9:g.48693352A>G | NCBI36 |
| NG_008927.1:g.9759T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.66T>C MANE Select | ENSP00000333813.5:p.Thr22= | |
| ENST00000330817.10:c.66T>C | ENSP00000333813.5:p.Thr22= | |
| NM_024105.3:c.66T>C | NP_077010.1:p.Thr22= | |
| XM_011530369.1:c.66T>C | XP_011528671.1:p.Thr22= | |
| XM_011530370.1:c.66T>C | XP_011528672.1:p.Thr22= | |
| XM_011530371.1:c.66T>C | XP_011528673.1:p.Thr22= | |
| XM_011530371.2:c.66T>C | XP_011528673.1:p.Thr22= | |
| XM_017028936.1:c.66T>C | XP_016884425.1:p.Thr22= | |
| XM_017028937.1:c.66T>C | XP_016884426.1:p.Thr22= | |
| NM_024105.4:c.66T>C MANE Select | NP_077010.1:p.Thr22= |