Linked Data
dbSNP Id:
rs1158768186
gnomAD v2:
17-46024078-G-A
gnomAD v3:
17-47946712-G-A
gnomAD v4:
17-47946712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946712G>A , CM000679.2:g.47946712G>A | GRCh38 |
| NC_000017.10:g.46024078G>A , CM000679.1:g.46024078G>A | GRCh37 |
| NC_000017.9:g.43379077G>A | NCBI36 |
| NG_008744.1:g.10190G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.587G>A | ENSP00000225573.5:p.Gly196Glu | |
| ENST00000434554.7:c.662G>A | ENSP00000399960.3:p.Gly221Glu | |
| ENST00000582171.6:c.*381G>A | ENSP00000463994.1:n.*381G>A | |
| ENST00000583599.6:c.476G>A | ENSP00000463919.2:p.Gly159Glu | |
| ENST00000584061.6:c.647G>A | ENSP00000463972.2:p.Gly216Glu | |
| ENST00000584806.2:n.385G>A | ||
| ENST00000641305.1:n.2215G>A | ||
| ENST00000641323.1:c.*735G>A | ENSP00000492965.1:n.*735G>A | |
| ENST00000641427.1:n.716G>A | ||
| ENST00000641511.1:c.448G>A | ||
| ENST00000641703.1:c.432G>A | ENSP00000493219.1:n.432G>A | |
| ENST00000641709.1:c.*538G>A | ENSP00000493349.1:n.*538G>A | |
| ENST00000641856.1:c.*1224G>A | ENSP00000493224.1:n.*1224G>A | |
| ENST00000642017.2:c.716G>A MANE Select | ENSP00000493302.2:p.Gly239Glu | |
| ENST00000225573.4:c.716G>A | ENSP00000225573.4:p.Gly239Glu | |
| ENST00000434554.6:c.587G>A | ENSP00000399960.2:p.Gly196Glu | |
| ENST00000582171.5:c.*381G>A | ENSP00000463994.1:n.*381G>A | |
| ENST00000584806.1:n.385G>A | ||
| ENST00000585320.5:c.*198G>A | ENSP00000462345.1:n.*198G>A | |
| NM_018129.3:c.716G>A | NP_060599.1:p.Gly239Glu | |
| XM_005257500.2:c.476G>A | XP_005257557.1:p.Gly159Glu | |
| XM_011524968.1:c.431G>A | XP_011523270.1:p.Gly144Glu | |
| XM_005257500.3:c.476G>A | XP_005257557.1:p.Gly159Glu | |
| XM_011524968.2:c.431G>A | XP_011523270.1:p.Gly144Glu | |
| XM_017024813.1:c.476G>A | XP_016880302.1:p.Gly159Glu | |
| NM_018129.4:c.716G>A MANE Select | NP_060599.1:p.Gly239Glu |