Linked Data
dbSNP Id:
rs767893111
ExAC:
22:42524902 T / C
gnomAD v2:
22-42524902-T-C
gnomAD v3:
22-42128900-T-C
gnomAD v4:
22-42128900-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128900T>C , CM000684.2:g.42128900T>C | GRCh38 |
| NC_000022.10:g.42524902T>C , CM000684.1:g.42524902T>C | GRCh37 |
| NC_000022.9:g.40854846T>C | NCBI36 |
| NG_008376.3:g.6092A>G | |
| NG_008376.4:g.6911A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.397A>G | ENSP00000353241.6:p.Asn133Asp | |
| ENST00000645361.2:c.550A>G MANE Select | ENSP00000496150.1:p.Asn184Asp | |
| ENST00000359033.4:c.397A>G | ENSP00000351927.4:p.Asn133Asp | |
| ENST00000360124.9:c.217A>G | ENSP00000353241.5:p.Asn73Asp | |
| ENST00000360608.9:c.550A>G | ENSP00000353820.5:p.Asn184Asp | |
| ENST00000389970.7:c.484A>G | ENSP00000374620.4:p.Asn162Asp | |
| ENST00000488442.1:n.1274A>G | ||
| NM_000106.5:c.550A>G | NP_000097.3:p.Asn184Asp | |
| NM_001025161.2:c.397A>G | NP_001020332.2:p.Asn133Asp | |
| XM_011529966.1:c.550A>G | XP_011528268.1:p.Asn184Asp | |
| XM_011529967.1:c.550A>G | XP_011528269.1:p.Asn184Asp | |
| XM_011529968.1:c.550A>G | XP_011528270.1:p.Asn184Asp | |
| XM_011529969.1:c.406A>G | XP_011528271.1:p.Asn136Asp | |
| XM_011529970.1:c.397A>G | XP_011528272.1:p.Asn133Asp | |
| XM_011529971.1:c.406A>G | XP_011528273.1:p.Asn136Asp | |
| XM_011529972.1:c.550A>G | XP_011528274.1:p.Asn184Asp | |
| NM_000106.6:c.550A>G MANE Select | NP_000097.3:p.Asn184Asp | |
| NM_001025161.3:c.397A>G | NP_001020332.2:p.Asn133Asp |