Linked Data
ClinVar Variation Id:
446307
dbSNP Id:
rs760889414
ExAC:
14:64886589 G / T
gnomAD v2:
14-64886589-G-T
gnomAD v4:
14-64419871-G-T
PubMed:
PMID:25633902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64419871G>T , CM000676.2:g.64419871G>T | GRCh38 |
| NC_000014.8:g.64886589G>T , CM000676.1:g.64886589G>T | GRCh37 |
| NC_000014.7:g.63956342G>T | NCBI36 |
| NG_012450.1:g.36831G>T | |
| NG_012450.2:g.36831G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555858.2:n.822G>T | ||
| ENST00000557539.2:c.430G>T | ENSP00000476468.2:p.Glu144Ter | |
| ENST00000697166.1:n.822G>T | ||
| ENST00000697167.1:c.673G>T | ENSP00000513155.1:p.Glu225Ter | |
| ENST00000697168.1:c.673G>T | ENSP00000513156.1:p.Glu225Ter | |
| ENST00000697169.1:c.673G>T | ENSP00000513157.1:p.Glu225Ter | |
| ENST00000697170.1:n.822G>T | ||
| ENST00000697171.1:c.673G>T | ENSP00000513158.1:p.Glu225Ter | |
| ENST00000697173.1:c.430G>T | ENSP00000513159.1:p.Glu144Ter | |
| ENST00000697174.1:c.478+4132G>T | ENSP00000513160.1:n.478+4132G>T | |
| ENST00000697175.1:c.430G>T | ENSP00000513161.1:p.Glu144Ter | |
| ENST00000697176.1:c.430G>T | ENSP00000513162.1:p.Glu144Ter | |
| ENST00000545908.6:c.673G>T | ENSP00000438588.2:p.Glu225Ter | |
| ENST00000554768.6:c.430G>T | ENSP00000477501.2:p.Glu144Ter | |
| ENST00000555709.7:c.*50G>T | ENSP00000450560.3:n.*50G>T | |
| ENST00000557370.3:c.673G>T | ENSP00000477199.2:p.Glu225Ter | |
| ENST00000650853.1:n.748G>T | ||
| ENST00000651537.1:c.673G>T | ENSP00000498511.1:p.Glu225Ter | |
| ENST00000652179.1:c.430G>T | ENSP00000498649.1:p.Glu144Ter | |
| ENST00000652337.1:c.673G>T MANE Select | ENSP00000498336.1:p.Glu225Ter | |
| ENST00000652503.1:n.297G>T | ||
| ENST00000216605.12:c.673G>T | ENSP00000216605.8:p.Glu225Ter | |
| ENST00000545908.5:c.841G>T | ENSP00000438588.1:p.Glu281Ter | |
| ENST00000554057.5:n.106G>T | ||
| ENST00000555252.5:n.730G>T | ||
| NM_005956.3:c.673G>T | NP_005947.3:p.Glu225Ter | |
| NM_001364837.1:c.673G>T | NP_001351766.1:p.Glu225Ter | |
| NM_005956.4:c.673G>T MANE Select | NP_005947.3:p.Glu225Ter |