Linked Data
ClinVar Variation Id:
1552657
ClinVar RCV Id:
RCV002185039
dbSNP Id:
rs756375656
gnomAD v4:
7-92511013-A-G
MyVariant Identifiers:
chr7:g.92140327A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511013A>G , CM000669.2:g.92511013A>G | GRCh38 |
| NC_000007.13:g.92140327A>G , CM000669.1:g.92140327A>G | GRCh37 |
| NC_000007.12:g.91978263A>G | NCBI36 |
| NG_008341.1:g.22519T>C | |
| NG_008341.2:g.22519T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1518T>C MANE Select | ENSP00000248633.4:p.Ser506= | |
| ENST00000248633.8:c.1518T>C | ENSP00000248633.4:p.Ser506= | |
| ENST00000422866.1:c.419T>C | ||
| ENST00000428214.5:c.1518T>C | ENSP00000394413.1:p.Ser506= | |
| ENST00000438045.5:c.552T>C | ENSP00000410438.1:p.Ser184= | |
| ENST00000476923.1:n.279T>C | ||
| ENST00000484913.5:n.1557T>C | ||
| NM_000466.2:c.1518T>C | NP_000457.1:p.Ser506= | |
| NM_001282677.1:c.1518T>C | NP_001269606.1:p.Ser506= | |
| NM_001282678.1:c.894T>C | NP_001269607.1:p.Ser298= | |
| XM_005250433.3:c.-149T>C | XP_005250490.1:n.-149T>C | |
| XR_242246.3:n.1614T>C | ||
| XM_017012319.2:c.-149T>C | XP_016867808.1:n.-149T>C | |
| XR_001744808.2:n.628T>C | ||
| XR_242246.5:n.1565T>C | ||
| NM_000466.3:c.1518T>C MANE Select | NP_000457.1:p.Ser506= | |
| NM_001282677.2:c.1518T>C | NP_001269606.1:p.Ser506= | |
| NM_001282678.2:c.894T>C | NP_001269607.1:p.Ser298= |