Linked Data
dbSNP Id:
rs758706584
gnomAD v2:
7-92134122-G-C
gnomAD v3:
7-92504808-G-C
gnomAD v4:
7-92504808-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504808G>C , CM000669.2:g.92504808G>C | GRCh38 |
| NC_000007.13:g.92134122G>C , CM000669.1:g.92134122G>C | GRCh37 |
| NC_000007.12:g.91972058G>C | NCBI36 |
| NG_008341.1:g.28724C>G | |
| NG_008341.2:g.28724C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1995C>G MANE Select | ENSP00000248633.4:p.Asp665Glu | |
| ENST00000248633.8:c.1995C>G | ENSP00000248633.4:p.Asp665Glu | |
| ENST00000428214.5:c.1900+1440C>G | ENSP00000394413.1:n.1900+1440C>G | |
| ENST00000438045.5:c.1029C>G | ENSP00000410438.1:p.Asp343Glu | |
| ENST00000484913.5:n.2034C>G | ||
| ENST00000496420.5:n.1671C>G | ||
| NM_000466.2:c.1995C>G | NP_000457.1:p.Asp665Glu | |
| NM_001282677.1:c.1900+1440C>G | NP_001269606.1:n.1900+1440C>G | |
| NM_001282678.1:c.1371C>G | NP_001269607.1:p.Asp457Glu | |
| XM_005250433.3:c.246C>G | XP_005250490.1:p.Asp82Glu | |
| XR_242246.3:n.2091C>G | ||
| XM_017012319.2:c.246C>G | XP_016867808.1:p.Asp82Glu | |
| XR_001744808.2:n.1022C>G | ||
| XR_242246.5:n.2042C>G | ||
| NM_000466.3:c.1995C>G MANE Select | NP_000457.1:p.Asp665Glu | |
| NM_001282677.2:c.1900+1440C>G | NP_001269606.1:n.1900+1440C>G | |
| NM_001282678.2:c.1371C>G | NP_001269607.1:p.Asp457Glu |