Linked Data
ClinVar Variation Id:
214715
dbSNP Id:
rs139674448
ExAC:
12:4794470 A / G
gnomAD v2:
12-4794470-A-G
gnomAD v3:
12-4685304-A-G
gnomAD v4:
12-4685304-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4685304A>G , CM000674.2:g.4685304A>G | GRCh38 |
| NC_000012.11:g.4794470A>G , CM000674.1:g.4794470A>G | GRCh37 |
| NC_000012.10:g.4664731A>G | NCBI36 |
| NG_032124.1:g.41207A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266544.10:c.942A>G MANE Select | ENSP00000266544.5:p.Ile314Met | |
| ENST00000648836.1:c.942A>G | ENSP00000497305.1:p.Ile314Met | |
| ENST00000266544.9:c.942A>G | ENSP00000266544.5:p.Ile314Met | |
| ENST00000540688.1:c.219A>G | ENSP00000439818.1:p.Ile73Met | |
| ENST00000543979.1:n.589+3004A>G | ||
| ENST00000544741.2:c.219A>G | ENSP00000456318.2:p.Ile73Met | |
| NM_005002.4:c.942A>G | NP_004993.1:p.Ile314Met | |
| NM_005002.5:c.942A>G MANE Select | NP_004993.1:p.Ile314Met |