Linked Data
ClinVar Variation Id:
537756
ClinVar RCV Id:
RCV000646780
dbSNP Id:
rs1554201018
COSMIC:
COSM5869218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447259G>A , CM000668.2:g.121447259G>A | GRCh38 |
| NC_000006.11:g.121768405G>A , CM000668.1:g.121768405G>A | GRCh37 |
| NC_000006.10:g.121810104G>A | NCBI36 |
| NG_008308.1:g.16661G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.412G>A MANE Select | ENSP00000282561.3:p.Gly138Ser | |
| ENST00000647564.1:c.412G>A | ENSP00000497565.1:p.Gly138Ser | |
| ENST00000649003.1:c.412G>A | ENSP00000497283.1:p.Gly138Ser | |
| ENST00000650427.1:c.412G>A | ENSP00000497367.1:p.Gly138Ser | |
| ENST00000282561.3:c.412G>A | ENSP00000282561.3:p.Gly138Ser | |
| NM_000165.4:c.412G>A | NP_000156.1:p.Gly138Ser | |
| NM_000165.5:c.412G>A MANE Select | NP_000156.1:p.Gly138Ser |