Linked Data
ClinVar Variation Id:
13499
dbSNP Id:
rs121918046
gnomAD v2:
15-89868751-G-A
gnomAD v3:
15-89325520-G-A
gnomAD v4:
15-89325520-G-A
COSMIC:
COSM1735543
PubMed:
PMID:12565911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325520G>A , CM000677.2:g.89325520G>A | GRCh38 |
| NC_000015.9:g.89868751G>A , CM000677.1:g.89868751G>A | GRCh37 |
| NC_000015.8:g.87669755G>A | NCBI36 |
| NG_008218.1:g.14276C>T | |
| NG_008218.2:g.14276C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.1879C>T | ENSP00000516154.1:p.Arg627Trp | |
| ENST00000268124.11:c.1879C>T MANE Select | ENSP00000268124.5:p.Arg627Trp | |
| ENST00000530292.3:c.1480C>T | ENSP00000432885.2:p.Arg494Trp | |
| ENST00000635986.2:c.1879C>T | ENSP00000490653.2:p.Arg627Trp | |
| ENST00000636774.1:c.*446C>T | ENSP00000489799.1:n.*446C>T | |
| ENST00000637238.1:c.616C>T | ENSP00000490756.1:p.Arg206Trp | |
| ENST00000637264.1:c.951C>T | ||
| ENST00000666746.1:c.1456C>T | ||
| ENST00000670281.1:c.199C>T | ENSP00000499709.1:p.Arg67Trp | |
| ENST00000672071.1:n.2077C>T | ||
| ENST00000672923.2:n.1982C>T | ||
| ENST00000268124.9:c.1879C>T | ENSP00000268124.5:p.Arg627Trp | |
| ENST00000442287.6:c.1879C>T | ENSP00000399851.2:p.Arg627Trp | |
| ENST00000526314.2:c.261C>T | ||
| ENST00000526398.1:c.68C>T | ||
| ENST00000532584.5:n.81C>T | ||
| ENST00000631044.2:c.*1262C>T | ENSP00000486730.1:n.*1262C>T | |
| NM_001126131.1:c.1879C>T | NP_001119603.1:p.Arg627Trp | |
| NM_002693.2:c.1879C>T | NP_002684.1:p.Arg627Trp | |
| NM_001126131.2:c.1879C>T | NP_001119603.1:p.Arg627Trp | |
| NM_002693.3:c.1879C>T MANE Select | NP_002684.1:p.Arg627Trp |