Linked Data
ClinVar Variation Id:
185178
dbSNP Id:
rs201141245
ExAC:
17:33434093 C / T
gnomAD v2:
17-33434093-C-T
gnomAD v3:
17-35107074-C-T
gnomAD v4:
17-35107074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107074C>T , CM000679.2:g.35107074C>T | GRCh38 |
| NC_000017.10:g.33434093C>T , CM000679.1:g.33434093C>T | GRCh37 |
| NC_000017.9:g.30458206C>T | NCBI36 |
| NG_031858.1:g.17796G>A , LRG_516:g.17796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+292G>A | ENSP00000468273.3:n.345+292G>A | |
| ENST00000587405.6:c.37G>A | ENSP00000466478.2:p.Val13Ile | |
| ENST00000590016.6:c.454G>A | ENSP00000466399.1:p.Val152Ile | |
| ENST00000590631.2:n.437-593G>A | ||
| ENST00000592577.6:c.37G>A | ENSP00000466839.2:p.Val13Ile | |
| ENST00000345365.11:c.394G>A MANE Select | ENSP00000338790.6:p.Val132Ile | |
| ENST00000335858.11:c.145-593G>A | ENSP00000338408.6:n.145-593G>A | |
| ENST00000345365.10:c.394G>A | ENSP00000338790.6:p.Val132Ile | |
| ENST00000394589.8:c.394G>A | ENSP00000378090.4:p.Val132Ile | |
| ENST00000415064.6:n.544G>A | ||
| ENST00000460118.6:c.-125-13G>A | ENSP00000464356.2:n.-125-13G>A | |
| ENST00000585343.5:c.476G>A | ||
| ENST00000585947.5:n.290G>A | ||
| ENST00000585982.5:n.500+292G>A | ||
| ENST00000586044.5:c.*125G>A | ENSP00000465584.1:n.*125G>A | |
| ENST00000586186.2:c.248+292G>A | ||
| ENST00000586210.5:c.312G>A | ENSP00000465612.1:p.Thr104= | |
| ENST00000587405.5:c.37G>A | ENSP00000466478.1:p.Val13Ile | |
| ENST00000587977.5:c.*134G>A | ENSP00000466587.1:n.*134G>A | |
| ENST00000587982.5:n.273+292G>A | ||
| ENST00000588372.5:c.37G>A | ENSP00000468764.1:p.Val13Ile | |
| ENST00000588594.5:c.*76+292G>A | ENSP00000465366.1:n.*76+292G>A | |
| ENST00000590016.5:c.454G>A | ENSP00000466399.1:p.Val152Ile | |
| ENST00000590631.1:c.-51-593G>A | ENSP00000465033.1:n.-51-593G>A | |
| ENST00000591723.5:c.-52+292G>A | ENSP00000467986.1:n.-52+292G>A | |
| ENST00000592181.1:c.37G>A | ENSP00000464799.1:p.Val13Ile | |
| ENST00000592430.5:n.363G>A | ||
| ENST00000592577.5:c.400G>A | ENSP00000466839.1:p.Val134Ile | |
| ENST00000592850.5:c.346-593G>A | ||
| ENST00000592928.2:n.167-593G>A | ||
| ENST00000593039.5:c.4-593G>A | ENSP00000466834.1:n.4-593G>A | |
| NM_001142571.1:c.454G>A | NP_001136043.1:p.Val152Ile | |
| NM_002878.3:c.394G>A , LRG_516t1:c.394G>A | NP_002869.3:p.Val132Ile | |
| NM_133629.2:c.145-593G>A | NP_598332.1:n.145-593G>A | |
| NR_037711.1:n.531G>A | ||
| NR_037712.1:n.482+292G>A | ||
| NR_037714.1:n.233-593G>A | ||
| NM_001142571.2:c.454G>A | NP_001136043.1:p.Val152Ile | |
| NM_133629.3:c.145-593G>A | NP_598332.1:n.145-593G>A | |
| NR_037711.2:n.420G>A | ||
| NR_037712.2:n.371+292G>A | ||
| NM_002878.4:c.394G>A MANE Select | NP_002869.3:p.Val132Ile |