Linked Data
ClinVar Variation Id:
46223
dbSNP Id:
rs377675706
ExAC:
19:4090588 G / A
gnomAD v2:
19-4090588-G-A
gnomAD v3:
19-4090590-G-A
gnomAD v4:
19-4090590-G-A
PubMed:
PMID:22558107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090590G>A , CM000681.2:g.4090590G>A | GRCh38 |
| NC_000019.9:g.4090588G>A , CM000681.1:g.4090588G>A | GRCh37 |
| NC_000019.8:g.4041588G>A | NCBI36 |
| NG_007996.1:g.38539C>T , LRG_750:g.38539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1650C>T | ||
| ENST00000688002.1:n.3362C>T | ||
| ENST00000688751.1:n.347C>T | ||
| ENST00000689792.1:n.1115C>T | ||
| ENST00000262948.10:c.*8C>T MANE Select | ENSP00000262948.4:n.*8C>T | |
| ENST00000262948.9:c.*8C>T | ENSP00000262948.3:n.*8C>T | |
| ENST00000394867.8:c.*8C>T | ENSP00000378336.1:n.*8C>T | |
| ENST00000597263.5:n.396C>T | ||
| ENST00000600584.5:n.2660C>T | ||
| ENST00000601786.5:n.1512C>T | ||
| NM_030662.3:c.*8C>T , LRG_750t1:c.*8C>T | NP_109587.1:n.*8C>T | |
| XM_006722799.2:c.*8C>T | XP_006722862.1:n.*8C>T | |
| XM_011528133.1:c.*8C>T | XP_011526435.1:n.*8C>T | |
| NM_030662.4:c.*8C>T MANE Select | NP_109587.1:n.*8C>T |