Linked Data
dbSNP Id:
rs771925643
ExAC:
20:31016048 G / A
gnomAD v2:
20-31016048-G-A
gnomAD v4:
20-32428245-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32428245G>A , CM000682.2:g.32428245G>A | GRCh38 |
| NC_000020.10:g.31016048G>A , CM000682.1:g.31016048G>A | GRCh37 |
| NC_000020.9:g.30479709G>A | NCBI36 |
| NG_027868.1:g.74902G>A , LRG_630:g.74902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.370G>A MANE Select | ENSP00000364839.4:p.Asp124Asn | |
| ENST00000470145.3:n.313G>A | ||
| ENST00000643168.1:c.286G>A | ENSP00000495003.1:p.Asp96Asn | |
| ENST00000644060.1:n.1174G>A | ||
| ENST00000644587.1:c.*209G>A | ENSP00000494813.1:n.*209G>A | |
| ENST00000644615.1:n.74G>A | ||
| ENST00000645514.1:n.118G>A | ||
| ENST00000646985.1:c.340G>A | ENSP00000495053.1:p.Asp114Asn | |
| ENST00000651418.1:c.370G>A | ENSP00000499150.1:p.Asp124Asn | |
| ENST00000306058.9:c.355G>A | ENSP00000305119.5:p.Asp119Asn | |
| ENST00000375687.8:c.370G>A | ENSP00000364839.4:p.Asp124Asn | |
| ENST00000470145.2:n.313G>A | ||
| ENST00000613218.4:c.370G>A | ENSP00000480487.1:p.Asp124Asn | |
| ENST00000620121.4:c.370G>A | ENSP00000481978.1:p.Asp124Asn | |
| NM_015338.5:c.370G>A , LRG_630t1:c.370G>A | NP_056153.2:p.Asp124Asn | |
| XM_006723727.2:c.367G>A | XP_006723790.1:p.Asp123Asn | |
| XM_006723728.2:c.340G>A | XP_006723791.1:p.Asp114Asn | |
| XM_006723730.2:c.286G>A | XP_006723793.1:p.Asp96Asn | |
| XM_006723732.2:c.340G>A | XP_006723795.1:p.Asp114Asn | |
| XM_011528647.1:c.634G>A | XP_011526949.1:p.Asp212Asn | |
| XM_011528648.1:c.631G>A | XP_011526950.1:p.Asp211Asn | |
| XM_011528649.1:c.550G>A | XP_011526951.1:p.Asp184Asn | |
| XM_011528650.1:c.634G>A | XP_011526952.1:p.Asp212Asn | |
| XM_011528651.1:c.349G>A | XP_011526953.1:p.Asp117Asn | |
| XM_011528652.1:c.286G>A | XP_011526954.1:p.Asp96Asn | |
| NM_001363734.1:c.340G>A | NP_001350663.1:p.Asp114Asn | |
| XM_006723727.3:c.367G>A | XP_006723790.1:p.Asp123Asn | |
| XM_006723728.3:c.340G>A | XP_006723791.1:p.Asp114Asn | |
| XM_006723730.4:c.286G>A | XP_006723793.1:p.Asp96Asn | |
| XM_011528648.3:c.631G>A | XP_011526950.1:p.Asp211Asn | |
| XM_011528652.2:c.286G>A | XP_011526954.1:p.Asp96Asn | |
| XM_017027704.1:c.286G>A | XP_016883193.1:p.Asp96Asn | |
| XM_017027705.1:c.286G>A | XP_016883194.1:p.Asp96Asn | |
| XM_017027706.1:c.370G>A | XP_016883195.1:p.Asp124Asn | |
| NM_015338.6:c.370G>A MANE Select | NP_056153.2:p.Asp124Asn |