Linked Data
ClinVar Variation Id:
471230
dbSNP Id:
rs755892540
ExAC:
22:50302989 G / A
gnomAD v2:
22-50302989-G-A
gnomAD v3:
22-49909341-G-A
gnomAD v4:
22-49909341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49909341G>A , CM000684.2:g.49909341G>A | GRCh38 |
| NC_000022.10:g.50302989G>A , CM000684.1:g.50302989G>A | GRCh37 |
| NC_000022.9:g.48688993G>A | NCBI36 |
| NG_008927.1:g.14118C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330817.11:c.671C>T MANE Select | ENSP00000333813.5:p.Thr224Met | |
| ENST00000330817.10:c.671C>T | ENSP00000333813.5:p.Thr224Met | |
| ENST00000492791.1:c.202C>T | ||
| NM_024105.3:c.671C>T | NP_077010.1:p.Thr224Met | |
| XM_011530369.1:c.671C>T | XP_011528671.1:p.Thr224Met | |
| XM_011530370.1:c.671C>T | XP_011528672.1:p.Thr224Met | |
| XM_011530371.1:c.671C>T | XP_011528673.1:p.Thr224Met | |
| XM_011530371.2:c.671C>T | XP_011528673.1:p.Thr224Met | |
| XM_017028936.1:c.671C>T | XP_016884425.1:p.Thr224Met | |
| XM_017028937.1:c.671C>T | XP_016884426.1:p.Thr224Met | |
| NM_024105.4:c.671C>T MANE Select | NP_077010.1:p.Thr224Met |