Linked Data
ClinVar Variation Id:
317886
dbSNP Id:
rs144136497
ExAC:
16:1412320 A / C
gnomAD v2:
16-1412320-A-C
gnomAD v3:
16-1362319-A-C
gnomAD v4:
16-1362319-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362319A>C , CM000678.2:g.1362319A>C | GRCh38 |
| NC_000016.9:g.1412320A>C , CM000678.1:g.1412320A>C | GRCh37 |
| NC_000016.8:g.1352321A>C | NCBI36 |
| NG_016985.1:g.15421A>C | |
| NG_033129.1:g.57386T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.624A>C | ||
| ENST00000529110.2:c.609A>C | ENSP00000435349.2:p.Leu203= | |
| ENST00000529957.6:n.583A>C | ||
| ENST00000683366.1:c.*257A>C | ENSP00000507283.1:n.*257A>C | |
| ENST00000683887.1:c.573A>C | ENSP00000506886.1:p.Leu191= | |
| ENST00000684100.1:n.519A>C | ||
| ENST00000684126.1:n.583A>C | ||
| ENST00000684688.1:n.1150A>C | ||
| ENST00000204679.9:c.525A>C MANE Select | ENSP00000204679.4:p.Leu175= | |
| ENST00000204679.8:c.525A>C | ENSP00000204679.4:p.Leu175= | |
| ENST00000527076.1:n.1541A>C | ||
| ENST00000527168.5:n.561A>C | ||
| ENST00000529957.5:n.624A>C | ||
| NM_032520.4:c.525A>C | NP_115909.1:p.Leu175= | |
| XM_017023782.1:c.573A>C | XP_016879271.1:p.Leu191= | |
| XM_017023783.1:c.165A>C | XP_016879272.1:p.Leu55= | |
| NM_032520.5:c.525A>C MANE Select | NP_115909.1:p.Leu175= |