Linked Data
ClinVar Variation Id:
203561
dbSNP Id:
rs145466253
ExAC:
12:121177117 G / A
gnomAD v2:
12-121177117-G-A
gnomAD v3:
12-120739314-G-A
gnomAD v4:
12-120739314-G-A
COSMIC:
COSM5913318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739314G>A , CM000674.2:g.120739314G>A | GRCh38 |
| NC_000012.11:g.121177117G>A , CM000674.1:g.121177117G>A | GRCh37 |
| NC_000012.10:g.119661500G>A | NCBI36 |
| NG_007991.1:g.18547G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.1105G>A MANE Select | ENSP00000242592.4:p.Gly369Ser | |
| ENST00000242592.8:c.1105G>A | ENSP00000242592.4:p.Gly369Ser | |
| ENST00000411593.2:c.1093G>A | ENSP00000401045.2:p.Gly365Ser | |
| NM_000017.3:c.1105G>A | NP_000008.1:p.Gly369Ser | |
| NM_001302554.1:c.1093G>A | NP_001289483.1:p.Gly365Ser | |
| NM_000017.4:c.1105G>A MANE Select | NP_000008.1:p.Gly369Ser | |
| NM_001302554.2:c.1093G>A | NP_001289483.1:p.Gly365Ser |