Linked Data
ClinVar Variation Id:
161733
ClinVar RCV Id:
RCV000149269
dbSNP Id:
rs193920744
COSMIC:
COSM1178606
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16553049C>G , CM000679.2:g.16553049C>G | GRCh38 |
| NC_000017.10:g.16456363C>G , CM000679.1:g.16456363C>G | GRCh37 |
| NC_000017.9:g.16397088C>G | NCBI36 |
| NG_051652.1:g.21164G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395825.4:c.1093G>C MANE Select | ENSP00000379169.3:p.Glu365Gln | |
| ENST00000395824.5:c.1093G>C | ENSP00000379168.1:p.Glu365Gln | |
| ENST00000395825.3:c.1093G>C | ENSP00000379169.3:p.Glu365Gln | |
| NM_020653.2:c.1093G>C | NP_065704.2:p.Glu365Gln | |
| XM_011523968.1:c.1093G>C | XP_011522270.1:p.Glu365Gln | |
| XM_011523969.1:c.1093G>C | XP_011522271.1:p.Glu365Gln | |
| NM_001346167.1:c.1093G>C | NP_001333096.1:p.Glu365Gln | |
| NM_001346168.1:c.1093G>C | NP_001333097.1:p.Glu365Gln | |
| NM_001346169.1:c.1093G>C | NP_001333098.1:p.Glu365Gln | |
| NM_001346170.1:c.949G>C | NP_001333099.1:p.Glu317Gln | |
| NM_001346171.1:c.586G>C | NP_001333100.1:p.Glu196Gln | |
| NM_020653.3:c.1093G>C | NP_065704.2:p.Glu365Gln | |
| XM_011523968.2:c.1093G>C | XP_011522270.1:p.Glu365Gln | |
| XR_001753080.2:n.368-2428C>G | ||
| NM_020653.4:c.1093G>C MANE Select | NP_065704.2:p.Glu365Gln | |
| NM_001346167.2:c.1093G>C | NP_001333096.1:p.Glu365Gln | |
| NM_001346168.2:c.1093G>C | NP_001333097.1:p.Glu365Gln | |
| NM_001346169.2:c.1093G>C | NP_001333098.1:p.Glu365Gln | |
| NM_001346171.2:c.586G>C | NP_001333100.1:p.Glu196Gln |