Linked Data
ClinVar Variation Id:
190309
ClinVar RCV Id:
RCV000170497
dbSNP Id:
rs786205226
COSMIC:
COSM1318051
PubMed:
PMID:25807284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11886025A>G , CM000674.2:g.11886025A>G | GRCh38 |
| NC_000012.11:g.12038959A>G , CM000674.1:g.12038959A>G | GRCh37 |
| NC_000012.10:g.11930226A>G | NCBI36 |
| NG_011443.1:g.241172A>G , LRG_609:g.241172A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396373.9:c.1252A>G MANE Select | ENSP00000379658.3:p.Arg418Gly | |
| ENST00000266427.3:c.89A>G | ||
| ENST00000396373.8:c.1252A>G | ENSP00000379658.3:p.Arg418Gly | |
| NM_001987.4:c.1252A>G , LRG_609t1:c.1252A>G | NP_001978.1:p.Arg418Gly | |
| XM_011520607.1:c.1249A>G | XP_011518909.1:p.Arg417Gly | |
| XM_011520608.1:c.1225A>G | XP_011518910.1:p.Arg409Gly | |
| XM_011520609.1:c.988A>G | XP_011518911.1:p.Arg330Gly | |
| XM_011520610.1:c.988A>G | XP_011518912.1:p.Arg330Gly | |
| XM_011520611.1:c.988A>G | XP_011518913.1:p.Arg330Gly | |
| XM_011520612.1:c.631A>G | XP_011518914.1:p.Arg211Gly | |
| XM_011520607.2:c.1249A>G | XP_011518909.1:p.Arg417Gly | |
| XM_011520608.2:c.1225A>G | XP_011518910.1:p.Arg409Gly | |
| XM_011520609.2:c.988A>G | XP_011518911.1:p.Arg330Gly | |
| XM_011520611.2:c.988A>G | XP_011518913.1:p.Arg330Gly | |
| XM_011520612.2:c.631A>G | XP_011518914.1:p.Arg211Gly | |
| XM_017018990.1:c.1117A>G | XP_016874479.1:p.Arg373Gly | |
| XM_017018991.1:c.988A>G | XP_016874480.1:p.Arg330Gly | |
| NM_001987.5:c.1252A>G MANE Select | NP_001978.1:p.Arg418Gly |