Linked Data
dbSNP Id:
rs763757057
ExAC:
16:1412775 G / GT
gnomAD v2:
16-1412775-G-GT
gnomAD v3:
16-1362774-G-GT
gnomAD v4:
16-1362774-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362775dup , CM000678.2:g.1362775dup | GRCh38 |
| NC_000016.9:g.1412776dup , CM000678.1:g.1412776dup | GRCh37 |
| NC_000016.8:g.1352777dup | NCBI36 |
| NG_016985.1:g.15877dup | |
| NG_033129.1:g.56930dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.840+33dup | ||
| ENST00000529110.2:c.825+33dup | ENSP00000435349.2:n.825+33dup | |
| ENST00000529957.6:n.799+33dup | ||
| ENST00000683366.1:c.*473+33dup | ENSP00000507283.1:n.*473+33dup | |
| ENST00000683887.1:c.789+33dup | ENSP00000506886.1:n.789+33dup | |
| ENST00000684100.1:n.735+33dup | ||
| ENST00000684126.1:n.875+33dup | ||
| ENST00000684688.1:n.1366+33dup | ||
| ENST00000204679.9:c.741+33dup MANE Select | ENSP00000204679.4:n.741+33dup | |
| ENST00000204679.8:c.741+33dup | ENSP00000204679.4:n.741+33dup | |
| ENST00000527076.1:n.1964+33dup | ||
| ENST00000527168.5:n.908+33dup | ||
| ENST00000529957.5:n.840+33dup | ||
| NM_032520.4:c.741+33dup | NP_115909.1:n.741+33dup | |
| XM_017023782.1:c.789+33dup | XP_016879271.1:n.789+33dup | |
| XM_017023783.1:c.381+33dup | XP_016879272.1:n.381+33dup | |
| NM_032520.5:c.741+33dup MANE Select | NP_115909.1:n.741+33dup |