Linked Data
ClinVar Variation Id:
966073
dbSNP Id:
rs759796840
ExAC:
16:1412886 A / C
gnomAD v2:
16-1412886-A-C
gnomAD v3:
16-1362885-A-C
gnomAD v4:
16-1362885-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362885A>C , CM000678.2:g.1362885A>C | GRCh38 |
| NC_000016.9:g.1412886A>C , CM000678.1:g.1412886A>C | GRCh37 |
| NC_000016.8:g.1352887A>C | NCBI36 |
| NG_016985.1:g.15987A>C | |
| NG_033129.1:g.56820T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.901A>C | ||
| ENST00000529110.2:c.886A>C | ENSP00000435349.2:p.Ile296Leu | |
| ENST00000529957.6:n.860A>C | ||
| ENST00000683366.1:c.*534A>C | ENSP00000507283.1:n.*534A>C | |
| ENST00000683887.1:c.850A>C | ENSP00000506886.1:p.Ile284Leu | |
| ENST00000684100.1:n.796A>C | ||
| ENST00000684126.1:n.936A>C | ||
| ENST00000684688.1:n.1427A>C | ||
| ENST00000204679.9:c.802A>C MANE Select | ENSP00000204679.4:p.Ile268Leu | |
| ENST00000204679.8:c.802A>C | ENSP00000204679.4:p.Ile268Leu | |
| ENST00000527076.1:n.2025A>C | ||
| ENST00000527168.5:n.969A>C | ||
| ENST00000529957.5:n.901A>C | ||
| NM_032520.4:c.802A>C | NP_115909.1:p.Ile268Leu | |
| XM_017023782.1:c.850A>C | XP_016879271.1:p.Ile284Leu | |
| XM_017023783.1:c.442A>C | XP_016879272.1:p.Ile148Leu | |
| NM_032520.5:c.802A>C MANE Select | NP_115909.1:p.Ile268Leu |