Linked Data
ClinVar Variation Id:
206459
dbSNP Id:
rs138727329
ExAC:
17:46023353 G / A
gnomAD v2:
17-46023353-G-A
gnomAD v3:
17-47945987-G-A
gnomAD v4:
17-47945987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47945987G>A , CM000679.2:g.47945987G>A | GRCh38 |
| NC_000017.10:g.46023353G>A , CM000679.1:g.46023353G>A | GRCh37 |
| NC_000017.9:g.43378352G>A | NCBI36 |
| NG_008744.1:g.9465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.418-336G>A | ENSP00000225573.5:n.418-336G>A | |
| ENST00000434554.7:c.490G>A | ENSP00000399960.3:p.Glu164Lys | |
| ENST00000582171.6:c.*209G>A | ENSP00000463994.1:n.*209G>A | |
| ENST00000583245.6:n.516G>A | ||
| ENST00000583599.6:c.304G>A | ENSP00000463919.2:p.Glu102Lys | |
| ENST00000584061.6:c.475G>A | ENSP00000463972.2:p.Glu159Lys | |
| ENST00000584806.2:n.216-336G>A | ||
| ENST00000641285.1:n.324G>A | ||
| ENST00000641305.1:n.1710G>A | ||
| ENST00000641323.1:c.*563G>A | ENSP00000492965.1:n.*563G>A | |
| ENST00000641427.1:n.544G>A | ||
| ENST00000641511.1:c.279-336G>A | ||
| ENST00000641703.1:c.260G>A | ENSP00000493219.1:n.260G>A | |
| ENST00000641709.1:c.*366G>A | ENSP00000493349.1:n.*366G>A | |
| ENST00000641856.1:c.*1052G>A | ENSP00000493224.1:n.*1052G>A | |
| ENST00000642017.2:c.544G>A MANE Select | ENSP00000493302.2:p.Glu182Lys | |
| ENST00000225573.4:c.544G>A | ENSP00000225573.4:p.Glu182Lys | |
| ENST00000434554.6:c.418-336G>A | ENSP00000399960.2:n.418-336G>A | |
| ENST00000582171.5:c.*209G>A | ENSP00000463994.1:n.*209G>A | |
| ENST00000583245.5:c.*563G>A | ENSP00000463520.1:n.*563G>A | |
| ENST00000583599.5:c.304G>A | ENSP00000463919.1:p.Glu102Lys | |
| ENST00000584806.1:n.216-336G>A | ||
| ENST00000585320.5:c.*29-336G>A | ENSP00000462345.1:n.*29-336G>A | |
| NM_018129.3:c.544G>A | NP_060599.1:p.Glu182Lys | |
| XM_005257500.2:c.304G>A | XP_005257557.1:p.Glu102Lys | |
| XM_011524968.1:c.259G>A | XP_011523270.1:p.Glu87Lys | |
| XM_005257500.3:c.304G>A | XP_005257557.1:p.Glu102Lys | |
| XM_011524968.2:c.259G>A | XP_011523270.1:p.Glu87Lys | |
| XM_017024813.1:c.304G>A | XP_016880302.1:p.Glu102Lys | |
| NM_018129.4:c.544G>A MANE Select | NP_060599.1:p.Glu182Lys |