Linked Data
ClinVar Variation Id:
962425
ClinVar RCV Id:
RCV001236279
dbSNP Id:
rs200106153
gnomAD v3:
7-92518156-T-C
gnomAD v4:
7-92518156-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518156T>C , CM000669.2:g.92518156T>C | GRCh38 |
| NC_000007.13:g.92147470T>C , CM000669.1:g.92147470T>C | GRCh37 |
| NC_000007.12:g.91985406T>C | NCBI36 |
| NG_008341.1:g.15376A>G | |
| NG_008341.2:g.15376A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.457A>G MANE Select | ENSP00000248633.4:p.Ile153Val | |
| ENST00000248633.8:c.457A>G | ENSP00000248633.4:p.Ile153Val | |
| ENST00000428214.5:c.457A>G | ENSP00000394413.1:p.Ile153Val | |
| ENST00000438045.5:c.273+3946A>G | ENSP00000410438.1:n.273+3946A>G | |
| ENST00000484913.5:n.496A>G | ||
| NM_000466.2:c.457A>G | NP_000457.1:p.Ile153Val | |
| NM_001282677.1:c.457A>G | NP_001269606.1:p.Ile153Val | |
| NM_001282678.1:c.-168A>G | NP_001269607.1:n.-168A>G | |
| XR_242246.3:n.553A>G | ||
| XR_242246.5:n.504A>G | ||
| NM_000466.3:c.457A>G MANE Select | NP_000457.1:p.Ile153Val | |
| NM_001282677.2:c.457A>G | NP_001269606.1:p.Ile153Val | |
| NM_001282678.2:c.-168A>G | NP_001269607.1:n.-168A>G |