Linked Data
ClinVar Variation Id:
488353
dbSNP Id:
rs1247392012
gnomAD v2:
10-81930608-T-C
gnomAD v4:
10-80170852-T-C
PubMed:
PMID:28469040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80170852T>C , CM000672.2:g.80170852T>C | GRCh38 |
| NC_000010.10:g.81930608T>C , CM000672.1:g.81930608T>C | GRCh37 |
| NC_000010.9:g.81920588T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422982.8:c.119A>G MANE Select | ENSP00000404412.2:p.Asp40Gly | |
| ENST00000265447.8:c.20A>G | ENSP00000265447.5:p.Asp7Gly | |
| ENST00000372231.7:c.119A>G | ENSP00000361305.3:p.Asp40Gly | |
| ENST00000422982.7:c.119A>G | ENSP00000404412.2:p.Asp40Gly | |
| ENST00000437799.1:c.119A>G | ENSP00000414642.1:p.Asp40Gly | |
| ENST00000438331.5:c.119A>G | ENSP00000398610.1:p.Asp40Gly | |
| NM_001157.2:c.119A>G | NP_001148.1:p.Asp40Gly | |
| NM_001278407.1:c.119A>G | NP_001265336.1:p.Asp40Gly | |
| NM_001278408.1:c.119A>G | NP_001265337.1:p.Asp40Gly | |
| NM_001278409.1:c.20A>G | NP_001265338.1:p.Asp7Gly | |
| NM_145868.1:c.119A>G | NP_665875.1:p.Asp40Gly | |
| NM_145869.1:c.119A>G | NP_665876.1:p.Asp40Gly | |
| XM_005269741.3:c.419A>G | XP_005269798.1:p.Asp140Gly | |
| XM_005269742.1:c.119A>G | XP_005269799.1:p.Asp40Gly | |
| XM_006717813.1:c.119A>G | XP_006717876.1:p.Asp40Gly | |
| XM_006717814.2:c.119A>G | XP_006717877.1:p.Asp40Gly | |
| XM_011539735.1:c.119A>G | XP_011538037.1:p.Asp40Gly | |
| XM_011539736.1:c.119A>G | XP_011538038.1:p.Asp40Gly | |
| XM_005269741.4:c.419A>G | XP_005269798.1:p.Asp140Gly | |
| XM_006717813.2:c.119A>G | XP_006717876.1:p.Asp40Gly | |
| XM_011539736.3:c.119A>G | XP_011538038.1:p.Asp40Gly | |
| NM_145868.2:c.119A>G MANE Select | NP_665875.1:p.Asp40Gly | |
| NM_001157.3:c.119A>G | NP_001148.1:p.Asp40Gly | |
| NM_001278407.2:c.119A>G | NP_001265336.1:p.Asp40Gly | |
| NM_001278409.2:c.20A>G | NP_001265338.1:p.Asp7Gly | |
| NM_145869.2:c.119A>G | NP_665876.1:p.Asp40Gly | |
| NM_001278408.2:c.119A>G | NP_001265337.1:p.Asp40Gly |