Linked Data
ClinVar Variation Id:
1157629
ClinVar RCV Id:
RCV001500768
dbSNP Id:
rs774256047
ExAC:
7:92134089 A / G
gnomAD v2:
7-92134089-A-G
gnomAD v3:
7-92504775-A-G
gnomAD v4:
7-92504775-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504775A>G , CM000669.2:g.92504775A>G | GRCh38 |
| NC_000007.13:g.92134089A>G , CM000669.1:g.92134089A>G | GRCh37 |
| NC_000007.12:g.91972025A>G | NCBI36 |
| NG_008341.1:g.28757T>C | |
| NG_008341.2:g.28757T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2028T>C MANE Select | ENSP00000248633.4:p.His676= | |
| ENST00000248633.8:c.2028T>C | ENSP00000248633.4:p.His676= | |
| ENST00000428214.5:c.1900+1473T>C | ENSP00000394413.1:n.1900+1473T>C | |
| ENST00000438045.5:c.1062T>C | ENSP00000410438.1:p.His354= | |
| ENST00000484913.5:n.2067T>C | ||
| ENST00000496420.5:n.1704T>C | ||
| NM_000466.2:c.2028T>C | NP_000457.1:p.His676= | |
| NM_001282677.1:c.1900+1473T>C | NP_001269606.1:n.1900+1473T>C | |
| NM_001282678.1:c.1404T>C | NP_001269607.1:p.His468= | |
| XM_005250433.3:c.279T>C | XP_005250490.1:p.His93= | |
| XR_242246.3:n.2124T>C | ||
| XM_017012319.2:c.279T>C | XP_016867808.1:p.His93= | |
| XR_001744808.2:n.1055T>C | ||
| XR_242246.5:n.2075T>C | ||
| NM_000466.3:c.2028T>C MANE Select | NP_000457.1:p.His676= | |
| NM_001282677.2:c.1900+1473T>C | NP_001269606.1:n.1900+1473T>C | |
| NM_001282678.2:c.1404T>C | NP_001269607.1:p.His468= |