Linked Data
ClinVar Variation Id:
3031288
ClinVar RCV Id:
RCV003896888
dbSNP Id:
rs1340075563
gnomAD v2:
16-14029427-C-T
gnomAD v3:
16-13935570-C-T
gnomAD v4:
16-13935570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935570C>T , CM000678.2:g.13935570C>T | GRCh38 |
| NC_000016.9:g.14029427C>T , CM000678.1:g.14029427C>T | GRCh37 |
| NC_000016.8:g.13936928C>T | NCBI36 |
| NG_011442.1:g.20414C>T , LRG_463:g.20414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1716C>T | ||
| ENST00000682617.1:c.1776C>T | ENSP00000507912.1:p.Ile592= | |
| ENST00000682826.1:c.*952C>T | ENSP00000507274.1:n.*952C>T | |
| ENST00000682909.1:n.3678C>T | ||
| ENST00000683277.1:n.3283C>T | ||
| ENST00000683407.1:n.1646C>T | ||
| ENST00000683962.1:c.*1332C>T | ENSP00000506854.1:n.*1332C>T | |
| ENST00000311895.8:c.1638C>T MANE Select | ENSP00000310520.7:p.Ile546= | |
| ENST00000311895.7:c.1638C>T | ENSP00000310520.7:p.Ile546= | |
| ENST00000389138.7:n.915C>T | ||
| NM_005236.2:c.1638C>T , LRG_463t1:c.1638C>T | NP_005227.1:p.Ile546= | |
| XM_011522424.1:c.1776C>T | XP_011520726.1:p.Ile592= | |
| XM_011522425.1:c.1095C>T | XP_011520727.1:p.Ile365= | |
| XM_011522426.1:c.849C>T | XP_011520728.1:p.Ile283= | |
| XM_011522427.1:c.288C>T | XP_011520729.1:p.Ile96= | |
| XR_932805.1:n.1797C>T | ||
| XM_011522424.3:c.1776C>T | XP_011520726.1:p.Ile592= | |
| XM_017023043.2:c.849C>T | XP_016878532.1:p.Ile283= | |
| NM_005236.3:c.1638C>T MANE Select | NP_005227.1:p.Ile546= |