Linked Data
ClinVar Variation Id:
2691177
ClinVar RCV Id:
RCV003486445
dbSNP Id:
rs2042971088
gnomAD v3:
15-48425397-A-C
gnomAD v4:
15-48425397-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425397A>C , CM000677.2:g.48425397A>C | GRCh38 |
| NC_000015.9:g.48717594A>C , CM000677.1:g.48717594A>C | GRCh37 |
| NC_000015.8:g.46504886A>C | NCBI36 |
| NG_008805.2:g.225392T>G , LRG_778:g.225392T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*233T>G | ENSP00000453958.2:n.*233T>G | |
| ENST00000674301.2:c.*938T>G | ENSP00000501333.2:n.*938T>G | |
| ENST00000682170.1:n.1606T>G | ||
| ENST00000682767.1:n.722T>G | ||
| ENST00000316623.10:c.7425T>G MANE Select | ENSP00000325527.5:p.Ile2475Met | |
| ENST00000674301.1:c.2591T>G | ENSP00000501333.1:n.2591T>G | |
| ENST00000316623.9:c.7425T>G | ENSP00000325527.5:p.Ile2475Met | |
| ENST00000559133.5:c.2794T>G | ||
| NM_000138.4:c.7425T>G , LRG_778t1:c.7425T>G | NP_000129.3:p.Ile2475Met | |
| NM_000138.5:c.7425T>G MANE Select | NP_000129.3:p.Ile2475Met |