Linked Data
ClinVar Variation Id:
17903
ClinVar RCV Id:
RCV000019492
dbSNP Id:
rs121918382
ExAC:
11:116703532 A / G
gnomAD v2:
11-116703532-A-G
gnomAD v4:
11-116832816-A-G
PubMed:
PMID:2022742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832816A>G , CM000673.2:g.116832816A>G | GRCh38 |
| NC_000011.9:g.116703532A>G , CM000673.1:g.116703532A>G | GRCh37 |
| NC_000011.8:g.116208742A>G | NCBI36 |
| NG_008949.1:g.7909A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.232A>G MANE Select | ENSP00000227667.2:p.Lys78Glu | |
| ENST00000227667.7:c.232A>G | ENSP00000227667.2:p.Lys78Glu | |
| ENST00000375345.3:c.286A>G | ENSP00000364494.1:p.Lys96Glu | |
| ENST00000630701.1:c.286A>G | ENSP00000486182.1:p.Lys96Glu | |
| NM_000040.1:c.232A>G | NP_000031.1:p.Lys78Glu | |
| NM_000040.2:c.232A>G | NP_000031.1:p.Lys78Glu | |
| NM_000040.3:c.232A>G MANE Select | NP_000031.1:p.Lys78Glu |