Linked Data
ClinVar Variation Id:
386755
dbSNP Id:
rs200347699
ExAC:
7:99700527 G / A
gnomAD v2:
7-99700527-G-A
gnomAD v3:
7-100102904-G-A
gnomAD v4:
7-100102904-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100102904G>A , CM000669.2:g.100102904G>A | GRCh38 |
| NC_000007.13:g.99700527G>A , CM000669.1:g.99700527G>A | GRCh37 |
| NC_000007.12:g.99538463G>A | NCBI36 |
| NG_016312.1:g.6398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.295G>A | ENSP00000393723.2:p.Glu99Lys | |
| ENST00000495154.2:n.456G>A | ||
| ENST00000713591.1:c.295G>A | ENSP00000518888.1:p.Glu99Lys | |
| ENST00000359593.9:c.295G>A MANE Select | ENSP00000352603.4:p.Glu99Lys | |
| ENST00000359593.8:c.295G>A | ENSP00000352603.4:p.Glu99Lys | |
| ENST00000394061.7:c.*248G>A | ENSP00000377625.3:n.*248G>A | |
| ENST00000416938.5:c.251G>A | ||
| ENST00000421755.5:c.295G>A | ENSP00000412185.1:p.Glu99Lys | |
| ENST00000422582.5:c.-90G>A | ENSP00000406676.1:n.-90G>A | |
| ENST00000429084.5:c.316G>A | ENSP00000403663.1:p.Glu106Lys | |
| ENST00000438383.5:c.148-505G>A | ENSP00000401613.1:n.148-505G>A | |
| ENST00000439416.5:c.219+158G>A | ENSP00000414286.1:n.219+158G>A | |
| ENST00000445208.5:c.254+123G>A | ENSP00000400598.1:n.254+123G>A | |
| ENST00000446007.5:c.295G>A | ENSP00000396928.1:p.Glu99Lys | |
| ENST00000463195.5:n.369G>A | ||
| ENST00000478501.5:n.799G>A | ||
| ENST00000495154.1:n.456G>A | ||
| NM_004722.3:c.295G>A | NP_004713.2:p.Glu99Lys | |
| XM_005250689.3:c.316G>A | XP_005250746.1:p.Glu106Lys | |
| XM_005250690.3:c.148-505G>A | XP_005250747.1:n.148-505G>A | |
| XM_006716175.2:c.316G>A | XP_006716238.1:p.Glu106Lys | |
| XM_011516685.1:c.316G>A | XP_011514987.1:p.Glu106Lys | |
| XM_011516686.1:c.-90G>A | XP_011514988.1:n.-90G>A | |
| XM_011516687.1:c.-314G>A | XP_011514989.1:n.-314G>A | |
| NM_001363671.1:c.316G>A | NP_001350600.1:p.Glu106Lys | |
| XM_005250689.4:c.316G>A | XP_005250746.1:p.Glu106Lys | |
| XM_005250690.4:c.148-505G>A | XP_005250747.1:n.148-505G>A | |
| XM_006716175.4:c.316G>A | XP_006716238.1:p.Glu106Lys | |
| XM_017012790.2:c.-90G>A | XP_016868279.1:n.-90G>A | |
| XM_017012791.2:c.-257-505G>A | XP_016868280.1:n.-257-505G>A | |
| XM_024446995.1:c.295G>A | XP_024302763.1:p.Glu99Lys | |
| XM_024446996.1:c.-314G>A | XP_024302764.1:n.-314G>A | |
| NM_004722.4:c.295G>A MANE Select | NP_004713.2:p.Glu99Lys | |
| NM_001363671.2:c.316G>A | NP_001350600.1:p.Glu106Lys |