Linked Data
dbSNP Id:
rs62621282
ExAC:
16:2287649 A / C
gnomAD v2:
16-2287649-A-C
gnomAD v3:
16-2237648-A-C
gnomAD v4:
16-2237648-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2237648A>C , CM000678.2:g.2237648A>C | GRCh38 |
| NC_000016.9:g.2287649A>C , CM000678.1:g.2287649A>C | GRCh37 |
| NC_000016.8:g.2227650A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320700.10:c.590A>C MANE Select | ENSP00000316938.5:p.Asp197Ala | |
| ENST00000320700.9:c.590A>C | ENSP00000316938.5:p.Asp197Ala | |
| ENST00000382437.8:c.527A>C | ENSP00000371874.4:p.Asp176Ala | |
| ENST00000564065.5:c.590A>C | ENSP00000454562.1:p.Asp197Ala | |
| ENST00000567494.5:c.590A>C | ENSP00000455358.1:p.Asp197Ala | |
| ENST00000569184.1:c.581A>C | ENSP00000455478.1:p.Asp194Ala | |
| ENST00000613572.4:c.527A>C | ENSP00000482627.1:p.Asp176Ala | |
| NM_001301680.1:c.590A>C | NP_001288609.1:p.Asp197Ala | |
| NM_001374.2:c.590A>C | NP_001365.1:p.Asp197Ala | |
| XM_011522399.1:c.863A>C | XP_011520701.1:p.Asp288Ala | |
| XM_011522399.2:c.863A>C | XP_011520701.1:p.Asp288Ala | |
| NM_001374.3:c.590A>C MANE Select | NP_001365.1:p.Asp197Ala | |
| NM_001301680.2:c.590A>C | NP_001288609.1:p.Asp197Ala |