Linked Data
ClinVar Variation Id:
8011
ClinVar RCV Id:
RCV000008475
dbSNP Id:
rs121909181
gnomAD v3:
16-2285499-C-T
gnomAD v4:
16-2285499-C-T
PubMed:
PMID:15044640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285499C>T , CM000678.2:g.2285499C>T | GRCh38 |
| NC_000016.9:g.2335500C>T , CM000678.1:g.2335500C>T | GRCh37 |
| NC_000016.8:g.2275501C>T | NCBI36 |
| NG_011790.1:g.60248G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.3426G>A MANE Select | ENSP00000301732.5:p.Trp1142Ter | |
| ENST00000301732.9:c.3426G>A | ENSP00000301732.5:p.Trp1142Ter | |
| ENST00000382381.7:c.3252G>A | ENSP00000371818.3:p.Trp1084Ter | |
| NM_001089.2:c.3426G>A | NP_001080.2:p.Trp1142Ter | |
| NM_001089.3:c.3426G>A MANE Select | NP_001080.2:p.Trp1142Ter |