Linked Data
ClinVar Variation Id:
1327562
ClinVar RCV Id:
RCV001789824
dbSNP Id:
rs62508725
ERepo:
CA16020968/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840511A>T , CM000674.2:g.102840511A>T | GRCh38 |
| NC_000012.11:g.103234289A>T , CM000674.1:g.103234289A>T | GRCh37 |
| NC_000012.10:g.101758419A>T | NCBI36 |
| NG_008690.1:g.82092T>A | |
| NG_008690.2:g.122900T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1204T>A MANE Select | ENSP00000448059.1:p.Phe402Ile | |
| ENST00000307000.7:c.1189T>A | ENSP00000303500.2:p.Phe397Ile | |
| ENST00000551114.2:n.866T>A | ||
| ENST00000553106.5:c.1204T>A | ENSP00000448059.1:p.Phe402Ile | |
| ENST00000635477.1:c.308T>A | ||
| ENST00000635528.1:n.719T>A | ||
| NM_000277.1:c.1204T>A | NP_000268.1:p.Phe402Ile | |
| XM_011538422.1:c.1147T>A | XP_011536724.1:p.Phe383Ile | |
| NM_000277.2:c.1204T>A | NP_000268.1:p.Phe402Ile | |
| NM_001354304.1:c.1204T>A | NP_001341233.1:p.Phe402Ile | |
| NM_000277.3:c.1204T>A MANE Select | NP_000268.1:p.Phe402Ile | |
| NM_001354304.2:c.1204T>A | NP_001341233.1:p.Phe402Ile |