Linked Data
ClinVar Variation Id:
234623
dbSNP Id:
rs749850181
ExAC:
5:148407911 C / A
gnomAD v2:
5-148407911-C-A
gnomAD v4:
5-149028348-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149028348C>A , CM000667.2:g.149028348C>A | GRCh38 |
| NC_000005.9:g.148407911C>A , CM000667.1:g.148407911C>A | GRCh37 |
| NC_000005.8:g.148388104C>A | NCBI36 |
| NG_007947.2:g.39827G>T , LRG_269:g.39827G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1395+9G>T | ||
| ENST00000515425.6:c.1384G>T MANE Select | ENSP00000423660.1:p.Glu462Ter | |
| ENST00000675793.1:c.*668G>T | ENSP00000502039.1:n.*668G>T | |
| ENST00000676056.1:c.*894G>T | ENSP00000501827.1:n.*894G>T | |
| ENST00000323829.9:c.*772G>T | ENSP00000313025.5:n.*772G>T | |
| ENST00000504517.5:c.914G>T | ENSP00000421779.1:n.914G>T | |
| ENST00000504690.5:c.1384G>T | ENSP00000425627.1:p.Glu462Ter | |
| ENST00000510779.1:c.434G>T | ||
| ENST00000511307.5:c.*1164G>T | ENSP00000421420.1:n.*1164G>T | |
| ENST00000512049.5:c.1363G>T | ENSP00000421860.1:p.Glu455Ter | |
| ENST00000513604.5:c.*772G>T | ENSP00000423111.1:n.*772G>T | |
| ENST00000515425.5:c.1384G>T | ENSP00000423660.1:p.Glu462Ter | |
| NM_024577.3:c.1384G>T , LRG_269t1:c.1384G>T | NP_078853.2:p.Glu462Ter | |
| NM_024577.4:c.1384G>T MANE Select | NP_078853.2:p.Glu462Ter |