Linked Data
ClinVar Variation Id:
474200
dbSNP Id:
rs145851520
ExAC:
16:14026071 A / T
gnomAD v2:
16-14026071-A-T
gnomAD v3:
16-13932214-A-T
gnomAD v4:
16-13932214-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13932214A>T , CM000678.2:g.13932214A>T | GRCh38 |
| NC_000016.9:g.14026071A>T , CM000678.1:g.14026071A>T | GRCh37 |
| NC_000016.8:g.13933572A>T | NCBI36 |
| NG_011442.1:g.17058A>T , LRG_463:g.17058A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.1019A>T | ||
| ENST00000682568.1:n.1109A>T | ||
| ENST00000682617.1:c.1169A>T | ENSP00000507912.1:p.Tyr390Phe | |
| ENST00000682826.1:c.*345A>T | ENSP00000507274.1:n.*345A>T | |
| ENST00000682909.1:n.3071A>T | ||
| ENST00000683277.1:n.2676A>T | ||
| ENST00000683407.1:n.1039A>T | ||
| ENST00000683962.1:c.*725A>T | ENSP00000506854.1:n.*725A>T | |
| ENST00000311895.8:c.1031A>T MANE Select | ENSP00000310520.7:p.Tyr344Phe | |
| ENST00000311895.7:c.1031A>T | ENSP00000310520.7:p.Tyr344Phe | |
| ENST00000389138.7:n.189A>T | ||
| ENST00000574194.1:c.558A>T | ||
| ENST00000575156.5:c.1031A>T | ENSP00000459933.1:p.Tyr344Phe | |
| NM_005236.2:c.1031A>T , LRG_463t1:c.1031A>T | NP_005227.1:p.Tyr344Phe | |
| XM_011522424.1:c.1169A>T | XP_011520726.1:p.Tyr390Phe | |
| XM_011522425.1:c.488A>T | XP_011520727.1:p.Tyr163Phe | |
| XM_011522426.1:c.242A>T | XP_011520728.1:p.Tyr81Phe | |
| XM_011522427.1:c.-439A>T | XP_011520729.1:n.-439A>T | |
| XR_932805.1:n.1190A>T | ||
| XM_011522424.3:c.1169A>T | XP_011520726.1:p.Tyr390Phe | |
| XM_017023043.2:c.242A>T | XP_016878532.1:p.Tyr81Phe | |
| NM_005236.3:c.1031A>T MANE Select | NP_005227.1:p.Tyr344Phe |