Linked Data
ClinVar Variation Id:
2184198
ClinVar RCV Id:
RCV002632178
dbSNP Id:
rs1338200187
gnomAD v4:
15-89325657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325657T>C , CM000677.2:g.89325657T>C | GRCh38 |
| NC_000015.9:g.89868888T>C , CM000677.1:g.89868888T>C | GRCh37 |
| NC_000015.8:g.87669892T>C | NCBI36 |
| NG_008218.1:g.14139A>G | |
| NG_008218.2:g.14139A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1742A>G | ENSP00000516154.1:p.Asp581Gly | |
| ENST00000268124.11:c.1742A>G MANE Select | ENSP00000268124.5:p.Asp581Gly | |
| ENST00000530292.3:c.1343A>G | ENSP00000432885.2:p.Asp448Gly | |
| ENST00000635986.2:c.1742A>G | ENSP00000490653.2:p.Asp581Gly | |
| ENST00000636774.1:c.*309A>G | ENSP00000489799.1:n.*309A>G | |
| ENST00000637238.1:c.479A>G | ENSP00000490756.1:p.Asp160Gly | |
| ENST00000637264.1:c.814A>G | ||
| ENST00000666746.1:c.1319A>G | ||
| ENST00000670281.1:c.62A>G | ENSP00000499709.1:p.Asp21Gly | |
| ENST00000672071.1:n.1940A>G | ||
| ENST00000672923.2:n.1845A>G | ||
| ENST00000268124.9:c.1742A>G | ENSP00000268124.5:p.Asp581Gly | |
| ENST00000442287.6:c.1742A>G | ENSP00000399851.2:p.Asp581Gly | |
| ENST00000526314.2:c.124A>G | ||
| ENST00000631044.2:c.*1125A>G | ENSP00000486730.1:n.*1125A>G | |
| NM_001126131.1:c.1742A>G | NP_001119603.1:p.Asp581Gly | |
| NM_002693.2:c.1742A>G | NP_002684.1:p.Asp581Gly | |
| NM_001126131.2:c.1742A>G | NP_001119603.1:p.Asp581Gly | |
| NM_002693.3:c.1742A>G MANE Select | NP_002684.1:p.Asp581Gly |