Linked Data
ClinVar Variation Id:
1673048
ClinVar RCV Id:
RCV002213549
dbSNP Id:
rs200156998
ExAC:
7:99700393 A / G
gnomAD v2:
7-99700393-A-G
gnomAD v3:
7-100102770-A-G
gnomAD v4:
7-100102770-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100102770A>G , CM000669.2:g.100102770A>G | GRCh38 |
| NC_000007.13:g.99700393A>G , CM000669.1:g.99700393A>G | GRCh37 |
| NC_000007.12:g.99538329A>G | NCBI36 |
| NG_016312.1:g.6264A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.243A>G | ENSP00000393723.2:p.Glu81= | |
| ENST00000495154.2:n.404A>G | ||
| ENST00000713591.1:c.243A>G | ENSP00000518888.1:p.Glu81= | |
| ENST00000359593.9:c.243A>G MANE Select | ENSP00000352603.4:p.Glu81= | |
| ENST00000359593.8:c.243A>G | ENSP00000352603.4:p.Glu81= | |
| ENST00000394061.7:c.*196A>G | ENSP00000377625.3:n.*196A>G | |
| ENST00000416938.5:c.199A>G | ||
| ENST00000421755.5:c.243A>G | ENSP00000412185.1:p.Glu81= | |
| ENST00000422582.5:c.-142A>G | ENSP00000406676.1:n.-142A>G | |
| ENST00000429084.5:c.264A>G | ENSP00000403663.1:p.Glu88= | |
| ENST00000438383.5:c.148-639A>G | ENSP00000401613.1:n.148-639A>G | |
| ENST00000439416.5:c.219+24A>G | ENSP00000414286.1:n.219+24A>G | |
| ENST00000445208.5:c.243A>G | ENSP00000400598.1:p.Glu81= | |
| ENST00000446007.5:c.243A>G | ENSP00000396928.1:p.Glu81= | |
| ENST00000463195.5:n.317A>G | ||
| ENST00000478501.5:n.747A>G | ||
| ENST00000495154.1:n.404A>G | ||
| NM_004722.3:c.243A>G | NP_004713.2:p.Glu81= | |
| XM_005250689.3:c.264A>G | XP_005250746.1:p.Glu88= | |
| XM_005250690.3:c.148-639A>G | XP_005250747.1:n.148-639A>G | |
| XM_006716175.2:c.264A>G | XP_006716238.1:p.Glu88= | |
| XM_011516685.1:c.264A>G | XP_011514987.1:p.Glu88= | |
| XM_011516686.1:c.-142A>G | XP_011514988.1:n.-142A>G | |
| XM_011516687.1:c.-366A>G | XP_011514989.1:n.-366A>G | |
| NM_001363671.1:c.264A>G | NP_001350600.1:p.Glu88= | |
| XM_005250689.4:c.264A>G | XP_005250746.1:p.Glu88= | |
| XM_005250690.4:c.148-639A>G | XP_005250747.1:n.148-639A>G | |
| XM_006716175.4:c.264A>G | XP_006716238.1:p.Glu88= | |
| XM_017012790.2:c.-142A>G | XP_016868279.1:n.-142A>G | |
| XM_017012791.2:c.-257-639A>G | XP_016868280.1:n.-257-639A>G | |
| XM_024446995.1:c.243A>G | XP_024302763.1:p.Glu81= | |
| XM_024446996.1:c.-366A>G | XP_024302764.1:n.-366A>G | |
| NM_004722.4:c.243A>G MANE Select | NP_004713.2:p.Glu81= | |
| NM_001363671.2:c.264A>G | NP_001350600.1:p.Glu88= |