Linked Data
ClinVar Variation Id:
2852119
ClinVar RCV Id:
RCV003758635
dbSNP Id:
rs763167583
ExAC:
7:92146659 T / C
gnomAD v2:
7-92146659-T-C
gnomAD v3:
7-92517345-T-C
gnomAD v4:
7-92517345-T-C
COSMIC:
COSM4877011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517345T>C , CM000669.2:g.92517345T>C | GRCh38 |
| NC_000007.13:g.92146659T>C , CM000669.1:g.92146659T>C | GRCh37 |
| NC_000007.12:g.91984595T>C | NCBI36 |
| NG_008341.1:g.16187A>G | |
| NG_008341.2:g.16187A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1170A>G MANE Select | ENSP00000248633.4:p.Gly390= | |
| ENST00000248633.8:c.1170A>G | ENSP00000248633.4:p.Gly390= | |
| ENST00000422866.1:c.71A>G | ||
| ENST00000428214.5:c.1170A>G | ENSP00000394413.1:p.Gly390= | |
| ENST00000438045.5:c.274-3378A>G | ENSP00000410438.1:n.274-3378A>G | |
| ENST00000484913.5:n.1209A>G | ||
| NM_000466.2:c.1170A>G | NP_000457.1:p.Gly390= | |
| NM_001282677.1:c.1170A>G | NP_001269606.1:p.Gly390= | |
| NM_001282678.1:c.546A>G | NP_001269607.1:p.Gly182= | |
| XR_242246.3:n.1266A>G | ||
| XM_017012319.2:c.-497A>G | XP_016867808.1:n.-497A>G | |
| XR_001744808.2:n.280A>G | ||
| XR_242246.5:n.1217A>G | ||
| NM_000466.3:c.1170A>G MANE Select | NP_000457.1:p.Gly390= | |
| NM_001282677.2:c.1170A>G | NP_001269606.1:p.Gly390= | |
| NM_001282678.2:c.546A>G | NP_001269607.1:p.Gly182= |