Linked Data
ClinVar Variation Id:
1005964
dbSNP Id:
rs201992413
ExAC:
16:1411915 C / G
gnomAD v2:
16-1411915-C-G
gnomAD v4:
16-1361914-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361914C>G , CM000678.2:g.1361914C>G | GRCh38 |
| NC_000016.9:g.1411915C>G , CM000678.1:g.1411915C>G | GRCh37 |
| NC_000016.8:g.1351916C>G | NCBI36 |
| NG_016985.1:g.15016C>G | |
| NG_033129.1:g.57791G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.375C>G | ||
| ENST00000529110.2:c.360C>G | ENSP00000435349.2:p.His120Gln | |
| ENST00000529957.6:n.334C>G | ||
| ENST00000683366.1:c.*8C>G | ENSP00000507283.1:n.*8C>G | |
| ENST00000683887.1:c.324C>G | ENSP00000506886.1:p.His108Gln | |
| ENST00000684100.1:n.270C>G | ||
| ENST00000684126.1:n.334C>G | ||
| ENST00000684688.1:n.901C>G | ||
| ENST00000204679.9:c.276C>G MANE Select | ENSP00000204679.4:p.His92Gln | |
| ENST00000204679.8:c.276C>G | ENSP00000204679.4:p.His92Gln | |
| ENST00000526820.5:c.*178C>G | ENSP00000434413.1:n.*178C>G | |
| ENST00000527076.1:n.1292C>G | ||
| ENST00000527168.5:n.312C>G | ||
| ENST00000529110.1:c.343C>G | ||
| ENST00000529957.5:n.375C>G | ||
| NM_032520.4:c.276C>G | NP_115909.1:p.His92Gln | |
| XM_017023782.1:c.324C>G | XP_016879271.1:p.His108Gln | |
| XM_017023783.1:c.-85C>G | XP_016879272.1:n.-85C>G | |
| NM_032520.5:c.276C>G MANE Select | NP_115909.1:p.His92Gln |