Linked Data
ClinVar Variation Id:
436996
dbSNP Id:
rs142698837
ExAC:
8:133882026 G / A
gnomAD v2:
8-133882026-G-A
gnomAD v3:
8-132869781-G-A
gnomAD v4:
8-132869781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132869781G>A , CM000670.2:g.132869781G>A | GRCh38 |
| NC_000008.10:g.133882026G>A , CM000670.1:g.133882026G>A | GRCh37 |
| NC_000008.9:g.133951208G>A | NCBI36 |
| NG_015832.1:g.7822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.229G>A MANE Select | ENSP00000220616.4:p.Gly77Ser | |
| ENST00000220616.8:c.229G>A | ENSP00000220616.4:p.Gly77Ser | |
| ENST00000523901.1:c.*80G>A | ENSP00000427871.1:n.*80G>A | |
| NM_003235.4:c.229G>A | NP_003226.4:p.Gly77Ser | |
| XM_005251038.3:c.229G>A | XP_005251095.1:p.Gly77Ser | |
| XM_005251040.3:c.229G>A | XP_005251097.1:p.Gly77Ser | |
| XM_005251042.3:c.229G>A | XP_005251099.1:p.Gly77Ser | |
| XM_005251043.3:c.229G>A | XP_005251100.1:p.Gly77Ser | |
| XM_006716622.2:c.229G>A | XP_006716685.1:p.Gly77Ser | |
| XM_005251038.4:c.229G>A | XP_005251095.1:p.Gly77Ser | |
| XM_005251040.4:c.229G>A | XP_005251097.1:p.Gly77Ser | |
| XM_005251042.4:c.229G>A | XP_005251099.1:p.Gly77Ser | |
| XM_006716622.3:c.229G>A | XP_006716685.1:p.Gly77Ser | |
| XM_017013793.1:c.229G>A | XP_016869282.1:p.Gly77Ser | |
| XM_017013794.1:c.229G>A | XP_016869283.1:p.Gly77Ser | |
| XM_017013795.1:c.229G>A | XP_016869284.1:p.Gly77Ser | |
| XM_017013796.1:c.229G>A | XP_016869285.1:p.Gly77Ser | |
| XM_017013797.1:c.13+1558G>A | XP_016869286.1:n.13+1558G>A | |
| XM_017013798.1:c.229G>A | XP_016869287.1:p.Gly77Ser | |
| XM_017013799.1:c.229G>A | XP_016869288.1:p.Gly77Ser | |
| XM_017013800.1:c.229G>A | XP_016869289.1:p.Gly77Ser | |
| NM_003235.5:c.229G>A MANE Select | NP_003226.4:p.Gly77Ser |