Linked Data
ClinVar Variation Id:
1936106
ClinVar RCV Id:
RCV002657933
dbSNP Id:
rs758671027
ExAC:
12:58157590 G / A
gnomAD v2:
12-58157590-G-A
gnomAD v3:
12-57763807-G-A
gnomAD v4:
12-57763807-G-A
COSMIC:
COSM942217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763807G>A , CM000674.2:g.57763807G>A | GRCh38 |
| NC_000012.11:g.58157590G>A , CM000674.1:g.58157590G>A | GRCh37 |
| NC_000012.10:g.56443857G>A | NCBI36 |
| NG_007076.1:g.8387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1298C>T | ENSP00000518840.1:p.Thr433Met | |
| ENST00000713545.1:c.*222C>T | ENSP00000518841.1:n.*222C>T | |
| ENST00000228606.9:c.1217C>T MANE Select | ENSP00000228606.4:p.Thr406Met | |
| ENST00000228606.8:c.1217C>T | ENSP00000228606.4:p.Thr406Met | |
| ENST00000547344.5:n.1356C>T | ||
| NM_000785.3:c.1217C>T | NP_000776.1:p.Thr406Met | |
| NM_000785.4:c.1217C>T MANE Select | NP_000776.1:p.Thr406Met |