Linked Data
ClinVar Variation Id:
200127
ClinVar RCV Id:
RCV003987427
dbSNP Id:
rs794728283
gnomAD v4:
15-48415549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415549G>A , CM000677.2:g.48415549G>A | GRCh38 |
| NC_000015.9:g.48707746G>A , CM000677.1:g.48707746G>A | GRCh37 |
| NC_000015.8:g.46495038G>A | NCBI36 |
| NG_008805.2:g.235240C>T , LRG_778:g.235240C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*846C>T | ENSP00000453958.2:n.*846C>T | |
| ENST00000674301.2:c.*1551C>T | ENSP00000501333.2:n.*1551C>T | |
| ENST00000682158.1:n.1419C>T | ||
| ENST00000682170.1:n.2219C>T | ||
| ENST00000682767.1:n.1335C>T | ||
| ENST00000316623.10:c.8038C>T MANE Select | ENSP00000325527.5:p.Arg2680Cys | |
| ENST00000674301.1:c.3204C>T | ENSP00000501333.1:n.3204C>T | |
| ENST00000316623.9:c.8038C>T | ENSP00000325527.5:p.Arg2680Cys | |
| ENST00000559133.5:c.3407C>T | ||
| ENST00000561429.1:n.293C>T | ||
| NM_000138.4:c.8038C>T , LRG_778t1:c.8038C>T | NP_000129.3:p.Arg2680Cys | |
| NM_000138.5:c.8038C>T MANE Select | NP_000129.3:p.Arg2680Cys |