Linked Data
ClinVar Variation Id:
853581
ClinVar RCV Id:
RCV001058418
dbSNP Id:
rs180819807
ExAC:
12:103237449 A / T
gnomAD v2:
12-103237449-A-T
gnomAD v3:
12-102843671-A-T
gnomAD v4:
12-102843671-A-T
ERepo:
CA6748732/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843671A>T , CM000674.2:g.102843671A>T | GRCh38 |
| NC_000012.11:g.103237449A>T , CM000674.1:g.103237449A>T | GRCh37 |
| NC_000012.10:g.101761579A>T | NCBI36 |
| NG_008690.1:g.78932T>A | |
| NG_008690.2:g.119740T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1174T>A MANE Select | ENSP00000448059.1:p.Phe392Ile | |
| ENST00000307000.7:c.1159T>A | ENSP00000303500.2:p.Phe387Ile | |
| ENST00000549247.6:n.933T>A | ||
| ENST00000551114.2:n.836T>A | ||
| ENST00000553106.5:c.1174T>A | ENSP00000448059.1:p.Phe392Ile | |
| ENST00000635477.1:c.278T>A | ||
| ENST00000635528.1:n.689T>A | ||
| NM_000277.1:c.1174T>A | NP_000268.1:p.Phe392Ile | |
| XM_011538422.1:c.1117T>A | XP_011536724.1:p.Phe373Ile | |
| NM_000277.2:c.1174T>A | NP_000268.1:p.Phe392Ile | |
| NM_001354304.1:c.1174T>A | NP_001341233.1:p.Phe392Ile | |
| NM_000277.3:c.1174T>A MANE Select | NP_000268.1:p.Phe392Ile | |
| NM_001354304.2:c.1174T>A | NP_001341233.1:p.Phe392Ile |