Linked Data
ClinVar Variation Id:
2184754
ClinVar RCV Id:
RCV002632312
dbSNP Id:
rs1792935786
gnomAD v4:
7-92519049-T-C
MyVariant Identifiers:
chr7:g.92148363T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519049T>C , CM000669.2:g.92519049T>C | GRCh38 |
| NC_000007.13:g.92148363T>C , CM000669.1:g.92148363T>C | GRCh37 |
| NC_000007.12:g.91986299T>C | NCBI36 |
| NG_008341.1:g.14483A>G | |
| NG_008341.2:g.14483A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.303A>G MANE Select | ENSP00000248633.4:p.Val101= | |
| ENST00000248633.8:c.303A>G | ENSP00000248633.4:p.Val101= | |
| ENST00000428214.5:c.303A>G | ENSP00000394413.1:p.Val101= | |
| ENST00000438045.5:c.273+3053A>G | ENSP00000410438.1:n.273+3053A>G | |
| ENST00000484913.5:n.307A>G | ||
| NM_000466.2:c.303A>G | NP_000457.1:p.Val101= | |
| NM_001282677.1:c.303A>G | NP_001269606.1:p.Val101= | |
| NM_001282678.1:c.-357A>G | NP_001269607.1:n.-357A>G | |
| XR_242246.3:n.399A>G | ||
| XR_242246.5:n.350A>G | ||
| NM_000466.3:c.303A>G MANE Select | NP_000457.1:p.Val101= | |
| NM_001282677.2:c.303A>G | NP_001269606.1:p.Val101= | |
| NM_001282678.2:c.-357A>G | NP_001269607.1:n.-357A>G |