Linked Data
ClinVar Variation Id:
1116433
ClinVar RCV Id:
RCV001444794
dbSNP Id:
rs555317161
ExAC:
16:14041718 C / T
gnomAD v2:
16-14041718-C-T
gnomAD v3:
16-13947861-C-T
gnomAD v4:
16-13947861-C-T
COSMIC:
COSM4478782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947861C>T , CM000678.2:g.13947861C>T | GRCh38 |
| NC_000016.9:g.14041718C>T , CM000678.1:g.14041718C>T | GRCh37 |
| NC_000016.8:g.13949219C>T | NCBI36 |
| NG_011442.1:g.32705C>T , LRG_463:g.32705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2403C>T | ENSP00000507912.1:p.Pro801= | |
| ENST00000683962.1:c.*1959C>T | ENSP00000506854.1:n.*1959C>T | |
| ENST00000311895.8:c.2265C>T MANE Select | ENSP00000310520.7:p.Pro755= | |
| ENST00000311895.7:c.2265C>T | ENSP00000310520.7:p.Pro755= | |
| ENST00000389138.7:n.1542C>T | ||
| ENST00000462862.1:c.578C>T | ENSP00000461322.1:n.578C>T | |
| NM_005236.2:c.2265C>T , LRG_463t1:c.2265C>T | NP_005227.1:p.Pro755= | |
| XM_011522424.1:c.2403C>T | XP_011520726.1:p.Pro801= | |
| XM_011522425.1:c.1722C>T | XP_011520727.1:p.Pro574= | |
| XM_011522426.1:c.1476C>T | XP_011520728.1:p.Pro492= | |
| XM_011522427.1:c.915C>T | XP_011520729.1:p.Pro305= | |
| XR_932805.1:n.2424C>T | ||
| XM_011522424.3:c.2403C>T | XP_011520726.1:p.Pro801= | |
| XM_017023043.2:c.1476C>T | XP_016878532.1:p.Pro492= | |
| NM_005236.3:c.2265C>T MANE Select | NP_005227.1:p.Pro755= |