Linked Data
ClinVar Variation Id:
134144
dbSNP Id:
rs55761944
ExAC:
16:14015921 G / T
gnomAD v2:
16-14015921-G-T
gnomAD v3:
16-13922064-G-T
gnomAD v4:
16-13922064-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13922064G>T , CM000678.2:g.13922064G>T | GRCh38 |
| NC_000016.9:g.14015921G>T , CM000678.1:g.14015921G>T | GRCh37 |
| NC_000016.8:g.13923422G>T | NCBI36 |
| NG_011442.1:g.6908G>T , LRG_463:g.6908G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.229G>T | ||
| ENST00000682568.1:n.171G>T | ||
| ENST00000682617.1:c.241G>T | ENSP00000507912.1:p.Val81Phe | |
| ENST00000682826.1:c.241G>T | ENSP00000507274.1:p.Val81Phe | |
| ENST00000682909.1:n.250G>T | ||
| ENST00000683277.1:n.1886G>T | ||
| ENST00000683407.1:n.249G>T | ||
| ENST00000683962.1:c.241G>T | ENSP00000506854.1:p.Val81Phe | |
| ENST00000311895.8:c.241G>T MANE Select | ENSP00000310520.7:p.Val81Phe | |
| ENST00000311895.7:c.241G>T | ENSP00000310520.7:p.Val81Phe | |
| ENST00000575156.5:c.241G>T | ENSP00000459933.1:p.Val81Phe | |
| ENST00000576348.1:n.216G>T | ||
| NM_005236.2:c.241G>T , LRG_463t1:c.241G>T | NP_005227.1:p.Val81Phe | |
| XM_011522424.1:c.241G>T | XP_011520726.1:p.Val81Phe | |
| XR_932805.1:n.262G>T | ||
| XR_933098.1:n.82+4461C>A | ||
| XR_933099.1:n.82+4461C>A | ||
| XR_933100.1:n.82+4461C>A | ||
| XM_011522424.3:c.241G>T | XP_011520726.1:p.Val81Phe | |
| XM_017023043.2:c.-697G>T | XP_016878532.1:n.-697G>T | |
| NM_005236.3:c.241G>T MANE Select | NP_005227.1:p.Val81Phe |