Linked Data
ClinVar Variation Id:
161580
ClinVar RCV Id:
RCV000149115
dbSNP Id:
rs193920997
COSMIC:
COSM1178812
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.11669625A>G , CM000679.2:g.11669625A>G | GRCh38 |
| NC_000017.10:g.11572942A>G , CM000679.1:g.11572942A>G | GRCh37 |
| NC_000017.9:g.11513667A>G | NCBI36 |
| NG_047047.1:g.76195A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262442.9:c.3184A>G MANE Select | ENSP00000262442.3:p.Ile1062Val | |
| ENST00000262442.8:c.3184A>G | ENSP00000262442.3:p.Ile1062Val | |
| ENST00000454412.6:c.3184A>G | ENSP00000414874.2:p.Ile1062Val | |
| NM_001372.3:c.3184A>G | NP_001363.2:p.Ile1062Val | |
| XM_011523703.1:c.3184A>G | XP_011522005.1:p.Ile1062Val | |
| XM_011523703.2:c.3184A>G | XP_011522005.1:p.Ile1062Val | |
| XM_017024292.2:c.3067A>G | XP_016879781.1:p.Ile1023Val | |
| XM_017024293.1:c.1066A>G | XP_016879782.1:p.Ile356Val | |
| XM_017024294.2:c.3184A>G | XP_016879783.1:p.Ile1062Val | |
| XM_017024295.2:c.3184A>G | XP_016879784.1:p.Ile1062Val | |
| NM_001372.4:c.3184A>G MANE Select | NP_001363.2:p.Ile1062Val |