Linked Data
ClinVar Variation Id:
231972
dbSNP Id:
rs773906955
ExAC:
17:33434045 G / A
gnomAD v2:
17-33434045-G-A
gnomAD v4:
17-35107026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107026G>A , CM000679.2:g.35107026G>A | GRCh38 |
| NC_000017.10:g.33434045G>A , CM000679.1:g.33434045G>A | GRCh37 |
| NC_000017.9:g.30458158G>A | NCBI36 |
| NG_031858.1:g.17844C>T , LRG_516:g.17844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+340C>T | ENSP00000468273.3:n.345+340C>T | |
| ENST00000587405.6:c.85C>T | ENSP00000466478.2:p.Gln29Ter | |
| ENST00000590016.6:c.502C>T | ENSP00000466399.1:p.Gln168Ter | |
| ENST00000590631.2:n.437-545C>T | ||
| ENST00000592577.6:c.85C>T | ENSP00000466839.2:p.Gln29Ter | |
| ENST00000345365.11:c.442C>T MANE Select | ENSP00000338790.6:p.Gln148Ter | |
| ENST00000335858.11:c.145-545C>T | ENSP00000338408.6:n.145-545C>T | |
| ENST00000345365.10:c.442C>T | ENSP00000338790.6:p.Gln148Ter | |
| ENST00000394589.8:c.442C>T | ENSP00000378090.4:p.Gln148Ter | |
| ENST00000415064.6:n.592C>T | ||
| ENST00000460118.6:c.-90C>T | ENSP00000464356.2:n.-90C>T | |
| ENST00000585343.5:c.524C>T | ||
| ENST00000585947.5:n.338C>T | ||
| ENST00000585982.5:n.500+340C>T | ||
| ENST00000586044.5:c.*173C>T | ENSP00000465584.1:n.*173C>T | |
| ENST00000586186.2:c.248+340C>T | ||
| ENST00000586210.5:c.*36C>T | ENSP00000465612.1:n.*36C>T | |
| ENST00000587405.5:c.85C>T | ENSP00000466478.1:p.Gln29Ter | |
| ENST00000587977.5:c.*182C>T | ENSP00000466587.1:n.*182C>T | |
| ENST00000587982.5:n.273+340C>T | ||
| ENST00000588372.5:c.85C>T | ENSP00000468764.1:p.Gln29Ter | |
| ENST00000588594.5:c.*76+340C>T | ENSP00000465366.1:n.*76+340C>T | |
| ENST00000590016.5:c.502C>T | ENSP00000466399.1:p.Gln168Ter | |
| ENST00000590631.1:c.-51-545C>T | ENSP00000465033.1:n.-51-545C>T | |
| ENST00000591723.5:c.-52+340C>T | ENSP00000467986.1:n.-52+340C>T | |
| ENST00000592181.1:c.85C>T | ENSP00000464799.1:p.Gln29Ter | |
| ENST00000592430.5:n.411C>T | ||
| ENST00000592577.5:c.448C>T | ENSP00000466839.1:p.Gln150Ter | |
| ENST00000592850.5:c.346-545C>T | ||
| ENST00000592928.2:n.167-545C>T | ||
| ENST00000593039.5:c.4-545C>T | ENSP00000466834.1:n.4-545C>T | |
| NM_001142571.1:c.502C>T | NP_001136043.1:p.Gln168Ter | |
| NM_002878.3:c.442C>T , LRG_516t1:c.442C>T | NP_002869.3:p.Gln148Ter | |
| NM_133629.2:c.145-545C>T | NP_598332.1:n.145-545C>T | |
| NR_037711.1:n.579C>T | ||
| NR_037712.1:n.482+340C>T | ||
| NR_037714.1:n.233-545C>T | ||
| NM_001142571.2:c.502C>T | NP_001136043.1:p.Gln168Ter | |
| NM_133629.3:c.145-545C>T | NP_598332.1:n.145-545C>T | |
| NR_037711.2:n.468C>T | ||
| NR_037712.2:n.371+340C>T | ||
| NM_002878.4:c.442C>T MANE Select | NP_002869.3:p.Gln148Ter |