Linked Data
ClinVar Variation Id:
1966562
ClinVar RCV Id:
RCV002745554
dbSNP Id:
rs1792106175
gnomAD v3:
7-92504847-C-T
gnomAD v4:
7-92504847-C-T
MyVariant Identifiers:
chr7:g.92134161C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504847C>T , CM000669.2:g.92504847C>T | GRCh38 |
| NC_000007.13:g.92134161C>T , CM000669.1:g.92134161C>T | GRCh37 |
| NC_000007.12:g.91972097C>T | NCBI36 |
| NG_008341.1:g.28685G>A | |
| NG_008341.2:g.28685G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1956G>A MANE Select | ENSP00000248633.4:p.Val652= | |
| ENST00000248633.8:c.1956G>A | ENSP00000248633.4:p.Val652= | |
| ENST00000428214.5:c.1900+1401G>A | ENSP00000394413.1:n.1900+1401G>A | |
| ENST00000438045.5:c.990G>A | ENSP00000410438.1:p.Val330= | |
| ENST00000484913.5:n.1995G>A | ||
| ENST00000496420.5:n.1632G>A | ||
| NM_000466.2:c.1956G>A | NP_000457.1:p.Val652= | |
| NM_001282677.1:c.1900+1401G>A | NP_001269606.1:n.1900+1401G>A | |
| NM_001282678.1:c.1332G>A | NP_001269607.1:p.Val444= | |
| XM_005250433.3:c.207G>A | XP_005250490.1:p.Val69= | |
| XR_242246.3:n.2052G>A | ||
| XM_017012319.2:c.207G>A | XP_016867808.1:p.Val69= | |
| XR_001744808.2:n.983G>A | ||
| XR_242246.5:n.2003G>A | ||
| NM_000466.3:c.1956G>A MANE Select | NP_000457.1:p.Val652= | |
| NM_001282677.2:c.1900+1401G>A | NP_001269606.1:n.1900+1401G>A | |
| NM_001282678.2:c.1332G>A | NP_001269607.1:p.Val444= |