Linked Data
ClinVar Variation Id:
373976
ClinVar RCV Id:
RCV000415196
dbSNP Id:
rs1057518809
gnomAD v4:
15-48425795-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425795T>C , CM000677.2:g.48425795T>C | GRCh38 |
| NC_000015.9:g.48717992T>C , CM000677.1:g.48717992T>C | GRCh37 |
| NC_000015.8:g.46505284T>C | NCBI36 |
| NG_008805.2:g.224994A>G , LRG_778:g.224994A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*82A>G | ENSP00000453958.2:n.*82A>G | |
| ENST00000674301.2:c.*787A>G | ENSP00000501333.2:n.*787A>G | |
| ENST00000682170.1:n.1455A>G | ||
| ENST00000682767.1:n.571A>G | ||
| ENST00000316623.10:c.7274A>G MANE Select | ENSP00000325527.5:p.Tyr2425Cys | |
| ENST00000674301.1:c.2440A>G | ENSP00000501333.1:n.2440A>G | |
| ENST00000316623.9:c.7274A>G | ENSP00000325527.5:p.Tyr2425Cys | |
| ENST00000559133.5:c.2643A>G | ||
| NM_000138.4:c.7274A>G , LRG_778t1:c.7274A>G | NP_000129.3:p.Tyr2425Cys | |
| NM_000138.5:c.7274A>G MANE Select | NP_000129.3:p.Tyr2425Cys |