Linked Data
ClinVar Variation Id:
547351
ClinVar RCV Id:
RCV000659589
dbSNP Id:
rs1555393523
gnomAD v4:
15-48411114-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411114A>C , CM000677.2:g.48411114A>C | GRCh38 |
| NC_000015.9:g.48703311A>C , CM000677.1:g.48703311A>C | GRCh37 |
| NC_000015.8:g.46490603A>C | NCBI36 |
| NG_008805.2:g.239675T>G , LRG_778:g.239675T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1300T>G | ENSP00000453958.2:n.*1300T>G | |
| ENST00000674301.2:c.*2005T>G | ENSP00000501333.2:n.*2005T>G | |
| ENST00000682158.1:n.1873T>G | ||
| ENST00000682170.1:n.2673T>G | ||
| ENST00000682767.1:n.1789T>G | ||
| ENST00000316623.10:c.8492T>G MANE Select | ENSP00000325527.5:p.Ile2831Ser | |
| ENST00000674301.1:c.3658T>G | ENSP00000501333.1:n.3658T>G | |
| ENST00000316623.9:c.8492T>G | ENSP00000325527.5:p.Ile2831Ser | |
| ENST00000559133.5:c.3861T>G | ||
| NM_000138.4:c.8492T>G , LRG_778t1:c.8492T>G | NP_000129.3:p.Ile2831Ser | |
| NM_000138.5:c.8492T>G MANE Select | NP_000129.3:p.Ile2831Ser |