Linked Data
ClinVar Variation Id:
141609
dbSNP Id:
rs587781875
ExAC:
17:33434056 G / A
gnomAD v2:
17-33434056-G-A
gnomAD v3:
17-35107037-G-A
gnomAD v4:
17-35107037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107037G>A , CM000679.2:g.35107037G>A | GRCh38 |
| NC_000017.10:g.33434056G>A , CM000679.1:g.33434056G>A | GRCh37 |
| NC_000017.9:g.30458169G>A | NCBI36 |
| NG_031858.1:g.17833C>T , LRG_516:g.17833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+329C>T | ENSP00000468273.3:n.345+329C>T | |
| ENST00000587405.6:c.74C>T | ENSP00000466478.2:p.Ser25Phe | |
| ENST00000590016.6:c.491C>T | ENSP00000466399.1:p.Ser164Phe | |
| ENST00000590631.2:n.437-556C>T | ||
| ENST00000592577.6:c.74C>T | ENSP00000466839.2:p.Ser25Phe | |
| ENST00000345365.11:c.431C>T MANE Select | ENSP00000338790.6:p.Ser144Phe | |
| ENST00000335858.11:c.145-556C>T | ENSP00000338408.6:n.145-556C>T | |
| ENST00000345365.10:c.431C>T | ENSP00000338790.6:p.Ser144Phe | |
| ENST00000394589.8:c.431C>T | ENSP00000378090.4:p.Ser144Phe | |
| ENST00000415064.6:n.581C>T | ||
| ENST00000460118.6:c.-101C>T | ENSP00000464356.2:n.-101C>T | |
| ENST00000585343.5:c.513C>T | ||
| ENST00000585947.5:n.327C>T | ||
| ENST00000585982.5:n.500+329C>T | ||
| ENST00000586044.5:c.*162C>T | ENSP00000465584.1:n.*162C>T | |
| ENST00000586186.2:c.248+329C>T | ||
| ENST00000586210.5:c.*25C>T | ENSP00000465612.1:n.*25C>T | |
| ENST00000587405.5:c.74C>T | ENSP00000466478.1:p.Ser25Phe | |
| ENST00000587977.5:c.*171C>T | ENSP00000466587.1:n.*171C>T | |
| ENST00000587982.5:n.273+329C>T | ||
| ENST00000588372.5:c.74C>T | ENSP00000468764.1:p.Ser25Phe | |
| ENST00000588594.5:c.*76+329C>T | ENSP00000465366.1:n.*76+329C>T | |
| ENST00000590016.5:c.491C>T | ENSP00000466399.1:p.Ser164Phe | |
| ENST00000590631.1:c.-51-556C>T | ENSP00000465033.1:n.-51-556C>T | |
| ENST00000591723.5:c.-52+329C>T | ENSP00000467986.1:n.-52+329C>T | |
| ENST00000592181.1:c.74C>T | ENSP00000464799.1:p.Ser25Phe | |
| ENST00000592430.5:n.400C>T | ||
| ENST00000592577.5:c.437C>T | ENSP00000466839.1:p.Ser146Phe | |
| ENST00000592850.5:c.346-556C>T | ||
| ENST00000592928.2:n.167-556C>T | ||
| ENST00000593039.5:c.4-556C>T | ENSP00000466834.1:n.4-556C>T | |
| NM_001142571.1:c.491C>T | NP_001136043.1:p.Ser164Phe | |
| NM_002878.3:c.431C>T , LRG_516t1:c.431C>T | NP_002869.3:p.Ser144Phe | |
| NM_133629.2:c.145-556C>T | NP_598332.1:n.145-556C>T | |
| NR_037711.1:n.568C>T | ||
| NR_037712.1:n.482+329C>T | ||
| NR_037714.1:n.233-556C>T | ||
| NM_001142571.2:c.491C>T | NP_001136043.1:p.Ser164Phe | |
| NM_133629.3:c.145-556C>T | NP_598332.1:n.145-556C>T | |
| NR_037711.2:n.457C>T | ||
| NR_037712.2:n.371+329C>T | ||
| NM_002878.4:c.431C>T MANE Select | NP_002869.3:p.Ser144Phe |