Linked Data
ClinVar Variation Id:
282383
dbSNP Id:
rs201779392
ExAC:
5:148411235 G / A
gnomAD v2:
5-148411235-G-A
gnomAD v3:
5-149031672-G-A
gnomAD v4:
5-149031672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149031672G>A , CM000667.2:g.149031672G>A | GRCh38 |
| NC_000005.9:g.148411235G>A , CM000667.1:g.148411235G>A | GRCh37 |
| NC_000005.8:g.148391428G>A | NCBI36 |
| NG_007947.2:g.36503C>T , LRG_269:g.36503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1037C>T | ||
| ENST00000515425.6:c.1017C>T MANE Select | ENSP00000423660.1:p.Ala339= | |
| ENST00000675793.1:c.*301C>T | ENSP00000502039.1:n.*301C>T | |
| ENST00000676056.1:c.*405C>T | ENSP00000501827.1:n.*405C>T | |
| ENST00000323829.9:c.*405C>T | ENSP00000313025.5:n.*405C>T | |
| ENST00000503071.1:n.484C>T | ||
| ENST00000504517.5:c.547C>T | ENSP00000421779.1:n.547C>T | |
| ENST00000504690.5:c.1017C>T | ENSP00000425627.1:p.Ala339= | |
| ENST00000511307.5:c.*797C>T | ENSP00000421420.1:n.*797C>T | |
| ENST00000512049.5:c.996C>T | ENSP00000421860.1:p.Ala332= | |
| ENST00000513340.1:n.391C>T | ||
| ENST00000513604.5:c.*405C>T | ENSP00000423111.1:n.*405C>T | |
| ENST00000515425.5:c.1017C>T | ENSP00000423660.1:p.Ala339= | |
| NM_024577.3:c.1017C>T , LRG_269t1:c.1017C>T | NP_078853.2:p.Ala339= | |
| NM_024577.4:c.1017C>T MANE Select | NP_078853.2:p.Ala339= |