Linked Data
ClinVar Variation Id:
1942018
ClinVar RCV Id:
RCV002643433
dbSNP Id:
rs1353988386
gnomAD v2:
7-92146989-A-G
gnomAD v4:
7-92517675-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517675A>G , CM000669.2:g.92517675A>G | GRCh38 |
| NC_000007.13:g.92146989A>G , CM000669.1:g.92146989A>G | GRCh37 |
| NC_000007.12:g.91984925A>G | NCBI36 |
| NG_008341.1:g.15857T>C | |
| NG_008341.2:g.15857T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.840T>C MANE Select | ENSP00000248633.4:p.Val280= | |
| ENST00000248633.8:c.840T>C | ENSP00000248633.4:p.Val280= | |
| ENST00000428214.5:c.840T>C | ENSP00000394413.1:p.Val280= | |
| ENST00000438045.5:c.274-3708T>C | ENSP00000410438.1:n.274-3708T>C | |
| ENST00000484913.5:n.879T>C | ||
| NM_000466.2:c.840T>C | NP_000457.1:p.Val280= | |
| NM_001282677.1:c.840T>C | NP_001269606.1:p.Val280= | |
| NM_001282678.1:c.216T>C | NP_001269607.1:p.Val72= | |
| XR_242246.3:n.936T>C | ||
| XR_242246.5:n.887T>C | ||
| NM_000466.3:c.840T>C MANE Select | NP_000457.1:p.Val280= | |
| NM_001282677.2:c.840T>C | NP_001269606.1:p.Val280= | |
| NM_001282678.2:c.216T>C | NP_001269607.1:p.Val72= |