Linked Data
ClinVar Variation Id:
39221
dbSNP Id:
rs33995883
ExAC:
12:40740686 A / G
gnomAD v2:
12-40740686-A-G
gnomAD v3:
12-40346884-A-G
gnomAD v4:
12-40346884-A-G
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40346884A>G , CM000674.2:g.40346884A>G | GRCh38 |
| NC_000012.11:g.40740686A>G , CM000674.1:g.40740686A>G | GRCh37 |
| NC_000012.10:g.39026953A>G | NCBI36 |
| NG_011709.1:g.126874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.6241A>G MANE Select | ENSP00000298910.7:p.Asn2081Asp | |
| ENST00000636518.1:c.38A>G | ||
| ENST00000679360.1:c.*5150A>G | ENSP00000505368.1:n.*5150A>G | |
| ENST00000679532.1:c.2015A>G | ||
| ENST00000679683.1:c.132A>G | ||
| ENST00000680018.1:c.1686A>G | ENSP00000505347.1:n.1686A>G | |
| ENST00000680422.1:c.1886A>G | ||
| ENST00000680425.1:c.1408A>G | ENSP00000506459.1:n.1408A>G | |
| ENST00000680453.1:c.1698A>G | ||
| ENST00000680790.1:c.5986A>G | ENSP00000505335.1:p.Asn1996Asp | |
| ENST00000681136.1:n.2225A>G | ||
| ENST00000681696.1:c.1924A>G | ENSP00000505871.1:p.Asn642Asp | |
| ENST00000298910.11:c.6241A>G | ENSP00000298910.7:p.Asn2081Asp | |
| ENST00000430804.5:c.3537A>G | ||
| ENST00000479187.5:n.2922A>G | ||
| NM_198578.3:c.6241A>G | NP_940980.3:p.Asn2081Asp | |
| XM_005268629.2:c.6241A>G | XP_005268686.1:p.Asn2081Asp | |
| XM_011537877.1:c.6241A>G | XP_011536179.1:p.Asn2081Asp | |
| XM_011537878.1:c.6241A>G | XP_011536180.1:p.Asn2081Asp | |
| XM_011537879.1:c.5038A>G | XP_011536181.1:p.Asn1680Asp | |
| XM_005268629.4:c.6241A>G | XP_005268686.1:p.Asn2081Asp | |
| XM_011537877.3:c.6241A>G | XP_011536179.1:p.Asn2081Asp | |
| XM_017018787.1:c.3157A>G | XP_016874276.1:p.Asn1053Asp | |
| XM_017018788.2:c.2503A>G | XP_016874277.1:p.Asn835Asp | |
| XM_024448833.1:c.5038A>G | XP_024304601.1:p.Asn1680Asp | |
| NM_198578.4:c.6241A>G MANE Select | NP_940980.4:p.Asn2081Asp |