Linked Data
dbSNP Id:
rs775491706
ExAC:
7:92135587 C / T
gnomAD v2:
7-92135587-C-T
gnomAD v4:
7-92506273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506273C>T , CM000669.2:g.92506273C>T | GRCh38 |
| NC_000007.13:g.92135587C>T , CM000669.1:g.92135587C>T | GRCh37 |
| NC_000007.12:g.91973523C>T | NCBI36 |
| NG_008341.1:g.27259G>A | |
| NG_008341.2:g.27259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1875G>A MANE Select | ENSP00000248633.4:p.Glu625= | |
| ENST00000248633.8:c.1875G>A | ENSP00000248633.4:p.Glu625= | |
| ENST00000422866.1:c.693G>A | ||
| ENST00000428214.5:c.1875G>A | ENSP00000394413.1:p.Glu625= | |
| ENST00000438045.5:c.909G>A | ENSP00000410438.1:p.Glu303= | |
| ENST00000484913.5:n.1914G>A | ||
| ENST00000496420.5:n.1551G>A | ||
| NM_000466.2:c.1875G>A | NP_000457.1:p.Glu625= | |
| NM_001282677.1:c.1875G>A | NP_001269606.1:p.Glu625= | |
| NM_001282678.1:c.1251G>A | NP_001269607.1:p.Glu417= | |
| XM_005250433.3:c.126G>A | XP_005250490.1:p.Glu42= | |
| XR_242246.3:n.1971G>A | ||
| XM_017012319.2:c.126G>A | XP_016867808.1:p.Glu42= | |
| XR_001744808.2:n.902G>A | ||
| XR_242246.5:n.1922G>A | ||
| NM_000466.3:c.1875G>A MANE Select | NP_000457.1:p.Glu625= | |
| NM_001282677.2:c.1875G>A | NP_001269606.1:p.Glu625= | |
| NM_001282678.2:c.1251G>A | NP_001269607.1:p.Glu417= |