Linked Data
ClinVar Variation Id:
40180
dbSNP Id:
rs397514648
ExAC:
14:75470068 T / A
gnomAD v2:
14-75470068-T-A
gnomAD v3:
14-75003365-T-A
gnomAD v4:
14-75003365-T-A
PubMed:
PMID:21484434
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003365T>A , CM000676.2:g.75003365T>A | GRCh38 |
| NC_000014.8:g.75470068T>A , CM000676.1:g.75470068T>A | GRCh37 |
| NC_000014.7:g.74539821T>A | NCBI36 |
| NG_013333.1:g.5457T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266126.10:c.254T>A MANE Select | ENSP00000266126.5:p.Val85Glu | |
| ENST00000266126.9:c.254T>A | ENSP00000266126.5:p.Val85Glu | |
| ENST00000553401.5:c.227T>A | ENSP00000451681.1:p.Val76Glu | |
| ENST00000553539.1:n.394T>A | ||
| ENST00000555522.1:n.312T>A | ||
| ENST00000556028.5:c.254T>A | ENSP00000452311.1:p.Val85Glu | |
| NM_014239.3:c.254T>A | NP_055054.1:p.Val85Glu | |
| NM_014239.4:c.254T>A MANE Select | NP_055054.1:p.Val85Glu |