Linked Data
ClinVar Variation Id:
502059
ClinVar RCV Id:
RCV000598428
dbSNP Id:
rs1419141450
gnomAD v3:
15-89325617-C-T
gnomAD v4:
15-89325617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325617C>T , CM000677.2:g.89325617C>T | GRCh38 |
| NC_000015.9:g.89868848C>T , CM000677.1:g.89868848C>T | GRCh37 |
| NC_000015.8:g.87669852C>T | NCBI36 |
| NG_008218.1:g.14179G>A | |
| NG_008218.2:g.14179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1782G>A | ENSP00000516154.1:p.Leu594= | |
| ENST00000268124.11:c.1782G>A MANE Select | ENSP00000268124.5:p.Leu594= | |
| ENST00000530292.3:c.1383G>A | ENSP00000432885.2:p.Leu461= | |
| ENST00000635986.2:c.1782G>A | ENSP00000490653.2:p.Leu594= | |
| ENST00000636774.1:c.*349G>A | ENSP00000489799.1:n.*349G>A | |
| ENST00000637238.1:c.519G>A | ENSP00000490756.1:p.Leu173= | |
| ENST00000637264.1:c.854G>A | ||
| ENST00000666746.1:c.1359G>A | ||
| ENST00000670281.1:c.102G>A | ENSP00000499709.1:p.Leu34= | |
| ENST00000672071.1:n.1980G>A | ||
| ENST00000672923.2:n.1885G>A | ||
| ENST00000268124.9:c.1782G>A | ENSP00000268124.5:p.Leu594= | |
| ENST00000442287.6:c.1782G>A | ENSP00000399851.2:p.Leu594= | |
| ENST00000526314.2:c.164G>A | ||
| ENST00000631044.2:c.*1165G>A | ENSP00000486730.1:n.*1165G>A | |
| NM_001126131.1:c.1782G>A | NP_001119603.1:p.Leu594= | |
| NM_002693.2:c.1782G>A | NP_002684.1:p.Leu594= | |
| NM_001126131.2:c.1782G>A | NP_001119603.1:p.Leu594= | |
| NM_002693.3:c.1782G>A MANE Select | NP_002684.1:p.Leu594= |