Linked Data
ClinVar Variation Id:
1957398
ClinVar RCV Id:
RCV002720495
dbSNP Id:
rs200332172
ExAC:
5:148407498 C / A
gnomAD v2:
5-148407498-C-A
gnomAD v4:
5-149027935-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027935C>A , CM000667.2:g.149027935C>A | GRCh38 |
| NC_000005.9:g.148407498C>A , CM000667.1:g.148407498C>A | GRCh37 |
| NC_000005.8:g.148387691C>A | NCBI36 |
| NG_007947.2:g.40240G>T , LRG_269:g.40240G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.1693G>T | ||
| ENST00000515425.6:c.1797G>T MANE Select | ENSP00000423660.1:p.Leu599= | |
| ENST00000675793.1:c.*1081G>T | ENSP00000502039.1:n.*1081G>T | |
| ENST00000676056.1:c.*1307G>T | ENSP00000501827.1:n.*1307G>T | |
| ENST00000323829.9:c.*1185G>T | ENSP00000313025.5:n.*1185G>T | |
| ENST00000504517.5:c.1327G>T | ENSP00000421779.1:n.1327G>T | |
| ENST00000504690.5:c.1797G>T | ENSP00000425627.1:p.Leu599= | |
| ENST00000510779.1:c.847G>T | ||
| ENST00000511307.5:c.*1577G>T | ENSP00000421420.1:n.*1577G>T | |
| ENST00000512049.5:c.1776G>T | ENSP00000421860.1:p.Leu592= | |
| ENST00000513604.5:c.*1185G>T | ENSP00000423111.1:n.*1185G>T | |
| ENST00000515425.5:c.1797G>T | ENSP00000423660.1:p.Leu599= | |
| NM_024577.3:c.1797G>T , LRG_269t1:c.1797G>T | NP_078853.2:p.Leu599= | |
| NM_024577.4:c.1797G>T MANE Select | NP_078853.2:p.Leu599= |