Linked Data
ClinVar Variation Id:
1081091
ClinVar RCV Id:
RCV001396936
dbSNP Id:
rs2116242424
MyVariant Identifiers:
chr7:g.92146611A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517297A>G , CM000669.2:g.92517297A>G | GRCh38 |
| NC_000007.13:g.92146611A>G , CM000669.1:g.92146611A>G | GRCh37 |
| NC_000007.12:g.91984547A>G | NCBI36 |
| NG_008341.1:g.16235T>C | |
| NG_008341.2:g.16235T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1218T>C MANE Select | ENSP00000248633.4:p.Val406= | |
| ENST00000248633.8:c.1218T>C | ENSP00000248633.4:p.Val406= | |
| ENST00000422866.1:c.119T>C | ||
| ENST00000428214.5:c.1218T>C | ENSP00000394413.1:p.Val406= | |
| ENST00000438045.5:c.274-3330T>C | ENSP00000410438.1:n.274-3330T>C | |
| ENST00000484913.5:n.1257T>C | ||
| NM_000466.2:c.1218T>C | NP_000457.1:p.Val406= | |
| NM_001282677.1:c.1218T>C | NP_001269606.1:p.Val406= | |
| NM_001282678.1:c.594T>C | NP_001269607.1:p.Val198= | |
| XR_242246.3:n.1314T>C | ||
| XM_017012319.2:c.-449T>C | XP_016867808.1:n.-449T>C | |
| XR_001744808.2:n.328T>C | ||
| XR_242246.5:n.1265T>C | ||
| NM_000466.3:c.1218T>C MANE Select | NP_000457.1:p.Val406= | |
| NM_001282677.2:c.1218T>C | NP_001269606.1:p.Val406= | |
| NM_001282678.2:c.594T>C | NP_001269607.1:p.Val198= |