Linked Data
dbSNP Id:
rs774382764
ExAC:
1:201286790 A / G
gnomAD v2:
1-201286790-A-G
gnomAD v4:
1-201317662-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317662A>G , CM000663.2:g.201317662A>G | GRCh38 |
| NC_000001.10:g.201286790A>G , CM000663.1:g.201286790A>G | GRCh37 |
| NC_000001.9:g.199553413A>G | NCBI36 |
| NG_023337.1:g.39211A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.937A>G MANE Select | ENSP00000356293.4:p.Asn313Asp | |
| ENST00000263946.7:c.937A>G | ENSP00000263946.3:p.Asn313Asp | |
| ENST00000352845.3:c.937A>G | ENSP00000295597.3:p.Asn313Asp | |
| ENST00000367324.7:c.937A>G | ENSP00000356293.3:p.Asn313Asp | |
| ENST00000475988.1:n.279A>G | ||
| ENST00000622031.4:c.934A>G | ENSP00000482213.1:p.Asn312Asp | |
| NM_000299.3:c.937A>G | NP_000290.2:p.Asn313Asp | |
| NM_001005337.2:c.937A>G | NP_001005337.1:p.Asn313Asp | |
| NM_001005337.3:c.937A>G MANE Select | NP_001005337.1:p.Asn313Asp | |
| NM_000299.4:c.937A>G | NP_000290.2:p.Asn313Asp |