Linked Data
ClinVar Variation Id:
942344
dbSNP Id:
rs143383133
ExAC:
16:1411934 A / G
gnomAD v2:
16-1411934-A-G
gnomAD v3:
16-1361933-A-G
gnomAD v4:
16-1361933-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361933A>G , CM000678.2:g.1361933A>G | GRCh38 |
| NC_000016.9:g.1411934A>G , CM000678.1:g.1411934A>G | GRCh37 |
| NC_000016.8:g.1351935A>G | NCBI36 |
| NG_016985.1:g.15035A>G | |
| NG_033129.1:g.57772T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.394A>G | ||
| ENST00000529110.2:c.379A>G | ENSP00000435349.2:p.Asn127Asp | |
| ENST00000529957.6:n.353A>G | ||
| ENST00000683366.1:c.*27A>G | ENSP00000507283.1:n.*27A>G | |
| ENST00000683887.1:c.343A>G | ENSP00000506886.1:p.Asn115Asp | |
| ENST00000684100.1:n.289A>G | ||
| ENST00000684126.1:n.353A>G | ||
| ENST00000684688.1:n.920A>G | ||
| ENST00000204679.9:c.295A>G MANE Select | ENSP00000204679.4:p.Asn99Asp | |
| ENST00000204679.8:c.295A>G | ENSP00000204679.4:p.Asn99Asp | |
| ENST00000526820.5:c.*197A>G | ENSP00000434413.1:n.*197A>G | |
| ENST00000527076.1:n.1311A>G | ||
| ENST00000527168.5:n.331A>G | ||
| ENST00000529110.1:c.362A>G | ||
| ENST00000529957.5:n.394A>G | ||
| NM_032520.4:c.295A>G | NP_115909.1:p.Asn99Asp | |
| XM_017023782.1:c.343A>G | XP_016879271.1:p.Asn115Asp | |
| XM_017023783.1:c.-66A>G | XP_016879272.1:n.-66A>G | |
| NM_032520.5:c.295A>G MANE Select | NP_115909.1:p.Asn99Asp |