Linked Data
ClinVar Variation Id:
200100
dbSNP Id:
rs794728262
gnomAD v4:
15-48427768-G-A
ERepo:
CA016924/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427768G>A , CM000677.2:g.48427768G>A | GRCh38 |
| NC_000015.9:g.48719965G>A , CM000677.1:g.48719965G>A | GRCh37 |
| NC_000015.8:g.46507257G>A | NCBI36 |
| NG_008805.2:g.223021C>T , LRG_778:g.223021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7065C>T | ENSP00000453958.2:p.Ile2355= | |
| ENST00000674301.2:c.*516C>T | ENSP00000501333.2:n.*516C>T | |
| ENST00000682170.1:n.1184C>T | ||
| ENST00000682767.1:n.300C>T | ||
| ENST00000316623.10:c.7003C>T MANE Select | ENSP00000325527.5:p.Arg2335Trp | |
| ENST00000674301.1:c.2169C>T | ENSP00000501333.1:n.2169C>T | |
| ENST00000316623.9:c.7003C>T | ENSP00000325527.5:p.Arg2335Trp | |
| ENST00000559133.5:c.2372C>T | ||
| NM_000138.4:c.7003C>T , LRG_778t1:c.7003C>T | NP_000129.3:p.Arg2335Trp | |
| NM_000138.5:c.7003C>T MANE Select | NP_000129.3:p.Arg2335Trp |