Linked Data
ClinVar Variation Id:
8467
dbSNP Id:
rs121434501
ExAC:
7:116166660 G / T
gnomAD v2:
7-116166660-G-T
gnomAD v3:
7-116526606-G-T
gnomAD v4:
7-116526606-G-T
PubMed:
PMID:18211975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116526606G>T , CM000669.2:g.116526606G>T | GRCh38 |
| NC_000007.13:g.116166660G>T , CM000669.1:g.116166660G>T | GRCh37 |
| NC_000007.12:g.115953896G>T | NCBI36 |
| NG_012051.1:g.6822G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341049.7:c.112G>T MANE Select | ENSP00000339191.2:p.Glu38Ter | |
| ENST00000405348.6:c.19G>T | ENSP00000384348.1:p.Glu7Ter | |
| ENST00000614113.5:c.290G>T | ENSP00000479447.2:p.Arg97Leu | |
| ENST00000341049.6:c.112G>T | ENSP00000339191.2:p.Glu38Ter | |
| ENST00000393467.1:c.19G>T | ENSP00000377110.1:p.Glu7Ter | |
| ENST00000393468.1:c.19G>T | ENSP00000377111.1:p.Glu7Ter | |
| ENST00000393470.1:c.79G>T | ENSP00000377113.1:p.Glu27Ter | |
| ENST00000405348.5:c.19G>T | ENSP00000384348.1:p.Glu7Ter | |
| ENST00000451122.5:c.*564G>T | ENSP00000409541.1:n.*564G>T | |
| ENST00000456473.5:c.19G>T | ENSP00000389033.1:p.Glu7Ter | |
| ENST00000489856.1:n.163G>T | ||
| ENST00000614113.4:c.19G>T | ENSP00000479447.1:p.Glu7Ter | |
| NM_001172895.1:c.19G>T | NP_001166366.1:p.Glu7Ter | |
| NM_001172896.1:c.19G>T | NP_001166367.1:p.Glu7Ter | |
| NM_001172897.1:c.19G>T | NP_001166368.1:p.Glu7Ter | |
| NM_001753.4:c.112G>T | NP_001744.2:p.Glu38Ter | |
| NM_001753.5:c.112G>T MANE Select | NP_001744.2:p.Glu38Ter | |
| NM_001172896.2:c.19G>T | NP_001166367.1:p.Glu7Ter | |
| NM_001172897.2:c.19G>T | NP_001166368.1:p.Glu7Ter |