Linked Data
dbSNP Id:
rs777898853
ExAC:
22:36661198 A / G
gnomAD v2:
22-36661198-A-G
gnomAD v3:
22-36265152-A-G
gnomAD v4:
22-36265152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36265152A>G , CM000684.2:g.36265152A>G | GRCh38 |
| NC_000022.10:g.36661198A>G , CM000684.1:g.36661198A>G | GRCh37 |
| NC_000022.9:g.34991144A>G | NCBI36 |
| NG_023228.1:g.17082A>G , LRG_169:g.17082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427990.6:c.316A>G | ENSP00000391302.2:p.Asn106Asp | |
| ENST00000433768.6:c.*78A>G | ENSP00000392514.1:n.*78A>G | |
| ENST00000438034.6:c.403A>G | ENSP00000404525.2:p.Asn135Asp | |
| ENST00000397278.8:c.316A>G MANE Select | ENSP00000380448.4:p.Asn106Asp | |
| ENST00000319136.8:c.364A>G | ENSP00000317674.4:p.Asn122Asp | |
| ENST00000397278.7:c.316A>G | ENSP00000380448.3:p.Asn106Asp | |
| ENST00000397279.8:c.316A>G | ENSP00000380449.4:p.Asn106Asp | |
| ENST00000422706.5:c.316A>G | ENSP00000411507.1:p.Asn106Asp | |
| ENST00000426053.5:c.262A>G | ENSP00000388477.1:p.Asn88Asp | |
| ENST00000427990.5:c.316A>G | ENSP00000391302.1:p.Asn106Asp | |
| NM_001136540.1:c.316A>G | NP_001130012.1:p.Asn106Asp | |
| NM_001136541.1:c.262A>G | NP_001130013.1:p.Asn88Asp | |
| NM_003661.3:c.316A>G | NP_003652.2:p.Asn106Asp | |
| NM_145343.2:c.364A>G , LRG_169t1:c.364A>G | NP_663318.1:p.Asn122Asp | |
| XM_005261796.2:c.262A>G | XP_005261853.1:p.Asn88Asp | |
| XM_011530478.1:c.-48A>G | XP_011528780.1:n.-48A>G | |
| NM_001362927.1:c.262A>G | NP_001349856.1:p.Asn88Asp | |
| XM_011530478.2:c.-48A>G | XP_011528780.1:n.-48A>G | |
| NM_001362927.2:c.262A>G | NP_001349856.1:p.Asn88Asp | |
| NM_003661.4:c.316A>G MANE Select | NP_003652.2:p.Asn106Asp | |
| NM_001136540.2:c.316A>G | NP_001130012.1:p.Asn106Asp | |
| NM_001136541.2:c.262A>G | NP_001130013.1:p.Asn88Asp | |
| NM_145343.3:c.364A>G | NP_663318.1:p.Asn122Asp |