Linked Data
ClinVar Variation Id:
256781
dbSNP Id:
rs202209156
ExAC:
2:233394846 G / A
gnomAD v2:
2-233394846-G-A
gnomAD v3:
2-232530136-G-A
gnomAD v4:
2-232530136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232530136G>A , CM000664.2:g.232530136G>A | GRCh38 |
| NC_000002.11:g.233394846G>A , CM000664.1:g.233394846G>A | GRCh37 |
| NC_000002.10:g.233103090G>A | NCBI36 |
| NG_008028.1:g.8925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.817G>A MANE Select | ENSP00000258385.3:p.Asp273Asn | |
| ENST00000258385.7:c.817G>A | ENSP00000258385.3:p.Asp273Asn | |
| ENST00000412233.5:c.510-1216G>A | ENSP00000398143.1:n.510-1216G>A | |
| ENST00000441621.6:c.707G>A | ENSP00000408819.2:p.Ter236= | |
| ENST00000446616.1:c.*458G>A | ENSP00000410801.1:n.*458G>A | |
| ENST00000543200.5:c.772G>A | ENSP00000438380.1:p.Asp258Asn | |
| NM_000751.2:c.817G>A | NP_000742.1:p.Asp273Asn | |
| NM_001256657.1:c.772G>A | NP_001243586.1:p.Asp258Asn | |
| NM_001311195.1:c.239-1216G>A | NP_001298124.1:n.239-1216G>A | |
| NM_001311196.1:c.514G>A | NP_001298125.1:p.Asp172Asn | |
| NR_046333.1:c.-4294966730-1216G>A | ||
| NR_046334.1:c.-4294966455G>A | ||
| XM_011510524.1:c.436G>A | XP_011508826.1:p.Asp146Asn | |
| XM_011510524.2:c.436G>A | XP_011508826.1:p.Asp146Asn | |
| NM_000751.3:c.817G>A MANE Select | NP_000742.1:p.Asp273Asn | |
| NM_001311195.2:c.239-1216G>A | NP_001298124.1:n.239-1216G>A | |
| NM_001311196.2:c.514G>A | NP_001298125.1:p.Asp172Asn | |
| NM_001256657.2:c.772G>A | NP_001243586.1:p.Asp258Asn |