Linked Data
ClinVar Variation Id:
2779634
ClinVar RCV Id:
RCV003626922
gnomAD v4:
15-89327289-G-C
MyVariant Identifiers:
chr15:g.89870520G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327289G>C , CM000677.2:g.89327289G>C | GRCh38 |
| NC_000015.9:g.89870520G>C , CM000677.1:g.89870520G>C | GRCh37 |
| NC_000015.8:g.87671524G>C | NCBI36 |
| NG_008218.1:g.12507C>G | |
| NG_008218.2:g.12507C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1311C>G | ENSP00000516154.1:p.Val437= | |
| ENST00000268124.11:c.1311C>G MANE Select | ENSP00000268124.5:p.Val437= | |
| ENST00000530292.3:c.912C>G | ENSP00000432885.2:p.Val304= | |
| ENST00000635986.2:c.1311C>G | ENSP00000490653.2:p.Val437= | |
| ENST00000636774.1:c.1311C>G | ENSP00000489799.1:p.Val437= | |
| ENST00000637238.1:c.48C>G | ENSP00000490756.1:p.Val16= | |
| ENST00000637264.1:c.383C>G | ||
| ENST00000666746.1:c.888C>G | ||
| ENST00000672071.1:n.1509C>G | ||
| ENST00000672923.2:n.1414C>G | ||
| ENST00000268124.9:c.1311C>G | ENSP00000268124.5:p.Val437= | |
| ENST00000442287.6:c.1311C>G | ENSP00000399851.2:p.Val437= | |
| ENST00000532363.2:n.169C>G | ||
| ENST00000631044.2:c.*694C>G | ENSP00000486730.1:n.*694C>G | |
| NM_001126131.1:c.1311C>G | NP_001119603.1:p.Val437= | |
| NM_002693.2:c.1311C>G | NP_002684.1:p.Val437= | |
| NM_001126131.2:c.1311C>G | NP_001119603.1:p.Val437= | |
| NM_002693.3:c.1311C>G MANE Select | NP_002684.1:p.Val437= |