Linked Data
ClinVar Variation Id:
2185528
ClinVar RCV Id:
RCV002596191
dbSNP Id:
rs963293292
gnomAD v4:
15-89326996-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326996T>C , CM000677.2:g.89326996T>C | GRCh38 |
| NC_000015.9:g.89870227T>C , CM000677.1:g.89870227T>C | GRCh37 |
| NC_000015.8:g.87671231T>C | NCBI36 |
| NG_008218.1:g.12800A>G | |
| NG_008218.2:g.12800A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1501A>G | ENSP00000516154.1:p.Lys501Glu | |
| ENST00000268124.11:c.1501A>G MANE Select | ENSP00000268124.5:p.Lys501Glu | |
| ENST00000530292.3:c.1102A>G | ENSP00000432885.2:p.Lys368Glu | |
| ENST00000635986.2:c.1501A>G | ENSP00000490653.2:p.Lys501Glu | |
| ENST00000636774.1:c.*68A>G | ENSP00000489799.1:n.*68A>G | |
| ENST00000637238.1:c.238A>G | ENSP00000490756.1:p.Lys80Glu | |
| ENST00000637264.1:c.573A>G | ||
| ENST00000666746.1:c.1078A>G | ||
| ENST00000672071.1:n.1699A>G | ||
| ENST00000672923.2:n.1604A>G | ||
| ENST00000268124.9:c.1501A>G | ENSP00000268124.5:p.Lys501Glu | |
| ENST00000442287.6:c.1501A>G | ENSP00000399851.2:p.Lys501Glu | |
| ENST00000631044.2:c.*884A>G | ENSP00000486730.1:n.*884A>G | |
| NM_001126131.1:c.1501A>G | NP_001119603.1:p.Lys501Glu | |
| NM_002693.2:c.1501A>G | NP_002684.1:p.Lys501Glu | |
| NM_001126131.2:c.1501A>G | NP_001119603.1:p.Lys501Glu | |
| NM_002693.3:c.1501A>G MANE Select | NP_002684.1:p.Lys501Glu |