Linked Data
ClinVar Variation Id:
484764
dbSNP Id:
rs775365939
ExAC:
17:33430491 C / A
gnomAD v2:
17-33430491-C-A
gnomAD v4:
17-35103472-C-A
PubMed:
PMID:26261251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35103472C>A , CM000679.2:g.35103472C>A | GRCh38 |
| NC_000017.10:g.33430491C>A , CM000679.1:g.33430491C>A | GRCh37 |
| NC_000017.9:g.30454604C>A | NCBI36 |
| NG_031858.1:g.21398G>T , LRG_516:g.21398G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.514G>T | ENSP00000468273.3:p.Gly172Ter | |
| ENST00000587405.6:c.292G>T | ENSP00000466478.2:p.Gly98Ter | |
| ENST00000590016.6:c.709G>T | ENSP00000466399.1:p.Gly237Ter | |
| ENST00000592577.6:c.292G>T | ENSP00000466839.2:p.Gly98Ter | |
| ENST00000345365.11:c.649G>T MANE Select | ENSP00000338790.6:p.Gly217Ter | |
| ENST00000335858.11:c.313G>T | ENSP00000338408.6:p.Gly105Ter | |
| ENST00000345365.10:c.649G>T | ENSP00000338790.6:p.Gly217Ter | |
| ENST00000394589.8:c.649G>T | ENSP00000378090.4:p.Gly217Ter | |
| ENST00000460118.6:c.118G>T | ENSP00000464356.2:p.Gly40Ter | |
| ENST00000586044.5:c.*380G>T | ENSP00000465584.1:n.*380G>T | |
| ENST00000586210.5:c.*243G>T | ENSP00000465612.1:n.*243G>T | |
| ENST00000587405.5:c.292G>T | ENSP00000466478.1:p.Gly98Ter | |
| ENST00000587977.5:c.*389G>T | ENSP00000466587.1:n.*389G>T | |
| ENST00000588372.5:c.*132G>T | ENSP00000468764.1:n.*132G>T | |
| ENST00000588594.5:c.*245G>T | ENSP00000465366.1:n.*245G>T | |
| ENST00000590016.5:c.709G>T | ENSP00000466399.1:p.Gly237Ter | |
| ENST00000591723.5:c.118G>T | ENSP00000467986.1:p.Gly40Ter | |
| ENST00000592181.1:c.292G>T | ENSP00000464799.1:p.Gly98Ter | |
| ENST00000592577.5:c.655G>T | ENSP00000466839.1:p.Gly219Ter | |
| ENST00000593039.5:c.172G>T | ENSP00000466834.1:p.Gly58Ter | |
| NM_001142571.1:c.709G>T | NP_001136043.1:p.Gly237Ter | |
| NM_002878.3:c.649G>T , LRG_516t1:c.649G>T | NP_002869.3:p.Gly217Ter | |
| NM_133629.2:c.313G>T | NP_598332.1:p.Gly105Ter | |
| NR_037711.1:n.786G>T | ||
| NR_037712.1:n.651G>T | ||
| NR_037714.1:n.401G>T | ||
| NM_001142571.2:c.709G>T | NP_001136043.1:p.Gly237Ter | |
| NM_133629.3:c.313G>T | NP_598332.1:p.Gly105Ter | |
| NR_037711.2:n.675G>T | ||
| NR_037712.2:n.540G>T | ||
| NM_002878.4:c.649G>T MANE Select | NP_002869.3:p.Gly217Ter |