Linked Data
ClinVar Variation Id:
2863474
ClinVar RCV Id:
RCV003608410
dbSNP Id:
rs368420135
gnomAD v3:
22-49904033-T-G
gnomAD v4:
22-49904033-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49904033T>G , CM000684.2:g.49904033T>G | GRCh38 |
| NC_000022.10:g.50297681T>G , CM000684.1:g.50297681T>G | GRCh37 |
| NC_000022.9:g.48683685T>G | NCBI36 |
| NG_008927.1:g.19426A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.1272A>C MANE Select | ENSP00000333813.5:p.Thr424= | |
| ENST00000330817.10:c.1272A>C | ENSP00000333813.5:p.Thr424= | |
| ENST00000486602.1:c.444+146A>C | ||
| ENST00000492791.1:c.681A>C | ||
| NM_024105.3:c.1272A>C | NP_077010.1:p.Thr424= | |
| XM_011530369.1:c.1238+146A>C | XP_011528671.1:n.1238+146A>C | |
| XM_011530370.1:c.1238+146A>C | XP_011528672.1:n.1238+146A>C | |
| XM_017028936.1:c.1238+146A>C | XP_016884425.1:n.1238+146A>C | |
| XM_017028937.1:c.1238+146A>C | XP_016884426.1:n.1238+146A>C | |
| NM_024105.4:c.1272A>C MANE Select | NP_077010.1:p.Thr424= |