Linked Data
ClinVar Variation Id:
16439
dbSNP Id:
rs137854466
gnomAD v2:
15-48703477-G-A
gnomAD v3:
15-48411280-G-A
gnomAD v4:
15-48411280-G-A
COSMIC:
COSM189580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411280G>A , CM000677.2:g.48411280G>A | GRCh38 |
| NC_000015.9:g.48703477G>A , CM000677.1:g.48703477G>A | GRCh37 |
| NC_000015.8:g.46490769G>A | NCBI36 |
| NG_008805.2:g.239509C>T , LRG_778:g.239509C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*1134C>T | ENSP00000453958.2:n.*1134C>T | |
| ENST00000674301.2:c.*1839C>T | ENSP00000501333.2:n.*1839C>T | |
| ENST00000682158.1:n.1707C>T | ||
| ENST00000682170.1:n.2507C>T | ||
| ENST00000682767.1:n.1623C>T | ||
| ENST00000316623.10:c.8326C>T MANE Select | ENSP00000325527.5:p.Arg2776Ter | |
| ENST00000674301.1:c.3492C>T | ENSP00000501333.1:n.3492C>T | |
| ENST00000316623.9:c.8326C>T | ENSP00000325527.5:p.Arg2776Ter | |
| ENST00000559133.5:c.3695C>T | ||
| ENST00000561429.1:n.581C>T | ||
| NM_000138.4:c.8326C>T , LRG_778t1:c.8326C>T | NP_000129.3:p.Arg2776Ter | |
| NM_000138.5:c.8326C>T MANE Select | NP_000129.3:p.Arg2776Ter |