Linked Data
ClinVar Variation Id:
200132
dbSNP Id:
rs148741353
ExAC:
15:48703354 A / C
gnomAD v2:
15-48703354-A-C
gnomAD v3:
15-48411157-A-C
gnomAD v4:
15-48411157-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411157A>C , CM000677.2:g.48411157A>C | GRCh38 |
| NC_000015.9:g.48703354A>C , CM000677.1:g.48703354A>C | GRCh37 |
| NC_000015.8:g.46490646A>C | NCBI36 |
| NG_008805.2:g.239632T>G , LRG_778:g.239632T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1257T>G | ENSP00000453958.2:n.*1257T>G | |
| ENST00000674301.2:c.*1962T>G | ENSP00000501333.2:n.*1962T>G | |
| ENST00000682158.1:n.1830T>G | ||
| ENST00000682170.1:n.2630T>G | ||
| ENST00000682767.1:n.1746T>G | ||
| ENST00000316623.10:c.8449T>G MANE Select | ENSP00000325527.5:p.Phe2817Val | |
| ENST00000674301.1:c.3615T>G | ENSP00000501333.1:n.3615T>G | |
| ENST00000316623.9:c.8449T>G | ENSP00000325527.5:p.Phe2817Val | |
| ENST00000559133.5:c.3818T>G | ||
| NM_000138.4:c.8449T>G , LRG_778t1:c.8449T>G | NP_000129.3:p.Phe2817Val | |
| NM_000138.5:c.8449T>G MANE Select | NP_000129.3:p.Phe2817Val |