Linked Data
ClinVar Variation Id:
2144068
ClinVar RCV Id:
RCV003068208
dbSNP Id:
rs774980172
gnomAD v2:
7-92140351-T-A
gnomAD v4:
7-92511037-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511037T>A , CM000669.2:g.92511037T>A | GRCh38 |
| NC_000007.13:g.92140351T>A , CM000669.1:g.92140351T>A | GRCh37 |
| NC_000007.12:g.91978287T>A | NCBI36 |
| NG_008341.1:g.22495A>T | |
| NG_008341.2:g.22495A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1494A>T MANE Select | ENSP00000248633.4:p.Glu498Asp | |
| ENST00000248633.8:c.1494A>T | ENSP00000248633.4:p.Glu498Asp | |
| ENST00000422866.1:c.395A>T | ||
| ENST00000428214.5:c.1494A>T | ENSP00000394413.1:p.Glu498Asp | |
| ENST00000438045.5:c.528A>T | ENSP00000410438.1:p.Glu176Asp | |
| ENST00000476923.1:n.255A>T | ||
| ENST00000484913.5:n.1533A>T | ||
| NM_000466.2:c.1494A>T | NP_000457.1:p.Glu498Asp | |
| NM_001282677.1:c.1494A>T | NP_001269606.1:p.Glu498Asp | |
| NM_001282678.1:c.870A>T | NP_001269607.1:p.Glu290Asp | |
| XM_005250433.3:c.-173A>T | XP_005250490.1:n.-173A>T | |
| XR_242246.3:n.1590A>T | ||
| XM_017012319.2:c.-173A>T | XP_016867808.1:n.-173A>T | |
| XR_001744808.2:n.604A>T | ||
| XR_242246.5:n.1541A>T | ||
| NM_000466.3:c.1494A>T MANE Select | NP_000457.1:p.Glu498Asp | |
| NM_001282677.2:c.1494A>T | NP_001269606.1:p.Glu498Asp | |
| NM_001282678.2:c.870A>T | NP_001269607.1:p.Glu290Asp |