Linked Data
ClinVar Variation Id:
1391278
ClinVar RCV Id:
RCV001892994
dbSNP Id:
rs2106479143
COSMIC:
COSM5603335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782306G>A , CM000664.2:g.218782306G>A | GRCh38 |
| NC_000002.11:g.219647029G>A , CM000664.1:g.219647029G>A | GRCh37 |
| NC_000002.10:g.219355273G>A | NCBI36 |
| NG_007959.1:g.5558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.124G>A MANE Select | ENSP00000258415.4:p.Gly42Arg | |
| ENST00000258415.8:c.124G>A | ENSP00000258415.4:p.Gly42Arg | |
| ENST00000445971.1:c.124G>A | ENSP00000404945.1:p.Gly42Arg | |
| ENST00000466602.1:n.133G>A | ||
| ENST00000494263.5:n.558G>A | ||
| NM_000784.3:c.124G>A | NP_000775.1:p.Gly42Arg | |
| XM_017003488.2:c.-106G>A | XP_016858977.1:n.-106G>A | |
| NM_000784.4:c.124G>A MANE Select | NP_000775.1:p.Gly42Arg |