Linked Data
ClinVar Variation Id:
5882
dbSNP Id:
rs267607166
ExAC:
17:26879407 T / A
gnomAD v2:
17-26879407-T-A
gnomAD v3:
17-28552389-T-A
gnomAD v4:
17-28552389-T-A
PubMed:
PMID:11006213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28552389T>A , CM000679.2:g.28552389T>A | GRCh38 |
| NC_000017.10:g.26879407T>A , CM000679.1:g.26879407T>A | GRCh37 |
| NC_000017.9:g.23903534T>A | NCBI36 |
| NG_012302.1:g.5240A>T , LRG_341:g.5240A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335765.9:c.169A>T MANE Select | ENSP00000337040.3:p.Lys57Ter | |
| ENST00000301032.8:c.169A>T | ENSP00000301032.4:p.Lys57Ter | |
| ENST00000335765.8:c.169A>T | ENSP00000337040.3:p.Lys57Ter | |
| ENST00000444148.1:c.169A>T | ENSP00000414639.1:p.Lys57Ter | |
| ENST00000481916.6:c.*1195+51662A>T | ENSP00000436369.2:n.*1195+51662A>T | |
| ENST00000578434.1:n.237A>T | ||
| ENST00000581945.1:c.161A>T | ||
| NM_005148.3:c.169A>T , LRG_341t1:c.169A>T | NP_005139.1:p.Lys57Ter | |
| NM_054035.2:c.169A>T , LRG_341t2:c.169A>T | NP_473376.1:p.Lys57Ter | |
| XM_011525459.1:c.169A>T | XP_011523761.1:p.Lys57Ter | |
| NM_001330166.1:c.-145A>T | NP_001317095.1:n.-145A>T | |
| XM_011525459.2:c.169A>T | XP_011523761.1:p.Lys57Ter | |
| NM_001330166.2:c.-145A>T | NP_001317095.1:n.-145A>T | |
| NM_005148.4:c.169A>T MANE Select | NP_005139.1:p.Lys57Ter |