Linked Data
ClinVar Variation Id:
452649
dbSNP Id:
rs745501973
ExAC:
13:40256310 G / A
gnomAD v2:
13-40256310-G-A
gnomAD v3:
13-39682173-G-A
gnomAD v4:
13-39682173-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39682173G>A , CM000675.2:g.39682173G>A | GRCh38 |
| NC_000013.10:g.40256310G>A , CM000675.1:g.40256310G>A | GRCh37 |
| NC_000013.9:g.39154310G>A | NCBI36 |
| NG_028352.1:g.31547G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.697G>A MANE Select | ENSP00000397441.2:p.Glu233Lys | |
| ENST00000356576.8:c.*534G>A | ENSP00000348983.4:n.*534G>A | |
| ENST00000416691.5:c.697G>A | ENSP00000403733.1:p.Glu233Lys | |
| ENST00000455146.7:c.697G>A | ENSP00000397441.2:p.Glu233Lys | |
| ENST00000465775.1:n.453G>A | ||
| ENST00000536488.5:c.429G>A | ||
| ENST00000537156.1:n.348G>A | ||
| NM_001145079.1:c.697G>A | NP_001138551.1:p.Glu233Lys | |
| NM_020751.2:c.697G>A | NP_065802.1:p.Glu233Lys | |
| NR_026745.1:n.862G>A | ||
| XM_011535168.1:c.697G>A | XP_011533470.1:p.Glu233Lys | |
| XM_011535169.1:c.541G>A | XP_011533471.1:p.Glu181Lys | |
| XM_011535170.1:c.541G>A | XP_011533472.1:p.Glu181Lys | |
| NM_020751.3:c.697G>A MANE Select | NP_065802.1:p.Glu233Lys | |
| NM_001145079.2:c.697G>A | NP_001138551.1:p.Glu233Lys |