Linked Data
ClinVar Variation Id:
258993
ClinVar RCV Id:
RCV003669121
dbSNP Id:
rs2069556
ExAC:
8:133920518 A / G
gnomAD v2:
8-133920518-A-G
gnomAD v3:
8-132908273-A-G
gnomAD v4:
8-132908273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132908273A>G , CM000670.2:g.132908273A>G | GRCh38 |
| NC_000008.10:g.133920518A>G , CM000670.1:g.133920518A>G | GRCh37 |
| NC_000008.9:g.133989700A>G | NCBI36 |
| NG_015832.1:g.46314A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220616.9:c.3935A>G MANE Select | ENSP00000220616.4:p.Asp1312Gly | |
| ENST00000220616.8:c.3935A>G | ENSP00000220616.4:p.Asp1312Gly | |
| ENST00000523756.5:c.590A>G | ||
| NM_003235.4:c.3935A>G | NP_003226.4:p.Asp1312Gly | |
| XM_005251038.3:c.3935A>G | XP_005251095.1:p.Asp1312Gly | |
| XM_005251040.3:c.3935A>G | XP_005251097.1:p.Asp1312Gly | |
| XM_005251042.3:c.3935A>G | XP_005251099.1:p.Asp1312Gly | |
| XM_005251043.3:c.3935A>G | XP_005251100.1:p.Asp1312Gly | |
| XM_006716622.2:c.3935A>G | XP_006716685.1:p.Asp1312Gly | |
| XM_005251038.4:c.3935A>G | XP_005251095.1:p.Asp1312Gly | |
| XM_005251040.4:c.3935A>G | XP_005251097.1:p.Asp1312Gly | |
| XM_005251042.4:c.3935A>G | XP_005251099.1:p.Asp1312Gly | |
| XM_006716622.3:c.3935A>G | XP_006716685.1:p.Asp1312Gly | |
| XM_017013793.1:c.3935A>G | XP_016869282.1:p.Asp1312Gly | |
| XM_017013794.1:c.3935A>G | XP_016869283.1:p.Asp1312Gly | |
| XM_017013795.1:c.3935A>G | XP_016869284.1:p.Asp1312Gly | |
| XM_017013796.1:c.3935A>G | XP_016869285.1:p.Asp1312Gly | |
| XM_017013797.1:c.3674A>G | XP_016869286.1:p.Asp1225Gly | |
| XM_017013798.1:c.3935A>G | XP_016869287.1:p.Asp1312Gly | |
| XM_017013799.1:c.3935A>G | XP_016869288.1:p.Asp1312Gly | |
| XM_017013800.1:c.3935A>G | XP_016869289.1:p.Asp1312Gly | |
| NM_003235.5:c.3935A>G MANE Select | NP_003226.4:p.Asp1312Gly |