Linked Data
ClinVar Variation Id:
2156412
dbSNP Id:
rs778481117
ExAC:
16:1411929 G / A
gnomAD v2:
16-1411929-G-A
gnomAD v3:
16-1361928-G-A
gnomAD v4:
16-1361928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361928G>A , CM000678.2:g.1361928G>A | GRCh38 |
| NC_000016.9:g.1411929G>A , CM000678.1:g.1411929G>A | GRCh37 |
| NC_000016.8:g.1351930G>A | NCBI36 |
| NG_016985.1:g.15030G>A | |
| NG_033129.1:g.57777C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.389G>A | ||
| ENST00000529110.2:c.374G>A | ENSP00000435349.2:p.Arg125His | |
| ENST00000529957.6:n.348G>A | ||
| ENST00000683366.1:c.*22G>A | ENSP00000507283.1:n.*22G>A | |
| ENST00000683887.1:c.338G>A | ENSP00000506886.1:p.Arg113His | |
| ENST00000684100.1:n.284G>A | ||
| ENST00000684126.1:n.348G>A | ||
| ENST00000684688.1:n.915G>A | ||
| ENST00000204679.9:c.290G>A MANE Select | ENSP00000204679.4:p.Arg97His | |
| ENST00000204679.8:c.290G>A | ENSP00000204679.4:p.Arg97His | |
| ENST00000526820.5:c.*192G>A | ENSP00000434413.1:n.*192G>A | |
| ENST00000527076.1:n.1306G>A | ||
| ENST00000527168.5:n.326G>A | ||
| ENST00000529110.1:c.357G>A | ||
| ENST00000529957.5:n.389G>A | ||
| NM_032520.4:c.290G>A | NP_115909.1:p.Arg97His | |
| XM_017023782.1:c.338G>A | XP_016879271.1:p.Arg113His | |
| XM_017023783.1:c.-71G>A | XP_016879272.1:n.-71G>A | |
| NM_032520.5:c.290G>A MANE Select | NP_115909.1:p.Arg97His |