Linked Data
ClinVar Variation Id:
128252
dbSNP Id:
rs1546808
ExAC:
12:53703021 G / A
gnomAD v2:
12-53703021-G-A
gnomAD v3:
12-53309237-G-A
gnomAD v4:
12-53309237-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309237G>A , CM000674.2:g.53309237G>A | GRCh38 |
| NC_000012.11:g.53703021G>A , CM000674.1:g.53703021G>A | GRCh37 |
| NC_000012.10:g.51989288G>A | NCBI36 |
| NG_016775.1:g.17392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.855C>T MANE Select | ENSP00000209873.4:p.Phe285= | |
| ENST00000546393.7:n.1700C>T | ||
| ENST00000546562.6:n.1919C>T | ||
| ENST00000547238.6:n.1491C>T | ||
| ENST00000547520.6:n.849C>T | ||
| ENST00000547757.2:c.-97C>T | ENSP00000448020.2:n.-97C>T | |
| ENST00000548880.2:n.1305C>T | ||
| ENST00000548931.6:c.375C>T | ENSP00000457518.1:p.Phe125= | |
| ENST00000549450.6:n.789C>T | ||
| ENST00000552161.6:n.1811C>T | ||
| ENST00000672797.1:n.1308C>T | ||
| ENST00000672900.1:n.1653C>T | ||
| ENST00000209873.8:c.855C>T | ENSP00000209873.4:p.Phe285= | |
| ENST00000394384.7:c.756C>T | ENSP00000377908.3:p.Phe252= | |
| ENST00000546393.6:n.752C>T | ||
| ENST00000546572.1:n.307C>T | ||
| ENST00000547520.5:n.559C>T | ||
| ENST00000547757.1:c.756C>T | ENSP00000448020.1:p.Phe252= | |
| ENST00000547761.6:n.747C>T | ||
| ENST00000548931.5:c.375C>T | ENSP00000457518.1:p.Phe125= | |
| ENST00000550033.5:n.110C>T | ||
| ENST00000550286.5:c.483C>T | ENSP00000446885.1:p.Phe161= | |
| ENST00000552876.5:n.1198C>T | ||
| NM_001173466.1:c.756C>T | NP_001166937.1:p.Phe252= | |
| NM_015665.5:c.855C>T | NP_056480.1:p.Phe285= | |
| XM_006719617.2:c.870C>T | XP_006719680.1:p.Phe290= | |
| XM_006719619.2:c.870C>T | XP_006719682.1:p.Phe290= | |
| XM_011538777.1:c.870C>T | XP_011537079.1:p.Phe290= | |
| XM_011538778.1:c.855C>T | XP_011537080.1:p.Phe285= | |
| XM_011538779.1:c.771C>T | XP_011537081.1:p.Phe257= | |
| XM_011538780.1:c.756C>T | XP_011537082.1:p.Phe252= | |
| XM_011538781.1:c.204C>T | XP_011537083.1:p.Phe68= | |
| XM_011538778.2:c.855C>T | XP_011537080.1:p.Phe285= | |
| XM_011538780.2:c.756C>T | XP_011537082.1:p.Phe252= | |
| XR_001748875.2:n.876C>T | ||
| NM_015665.6:c.855C>T MANE Select | NP_056480.1:p.Phe285= | |
| NM_001173466.2:c.756C>T | NP_001166937.1:p.Phe252= |