Linked Data
ClinVar Variation Id:
304481
ClinVar RCV Id:
RCV000383839
dbSNP Id:
rs9326
gnomAD v2:
11-35017205-G-T
gnomAD v3:
11-34995658-G-T
gnomAD v4:
11-34995658-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34995658G>T , CM000673.2:g.34995658G>T | GRCh38 |
| NC_000011.9:g.35017205G>T , CM000673.1:g.35017205G>T | GRCh37 |
| NC_000011.8:g.34973781G>T | NCBI36 |
| NG_013368.1:g.84529G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.*486G>T | ENSP00000389404.3:n.*486G>T | |
| ENST00000227868.9:c.*486G>T MANE Select | ENSP00000227868.4:n.*486G>T | |
| ENST00000227868.8:c.*486G>T | ENSP00000227868.4:n.*486G>T | |
| ENST00000448838.7:c.*486G>T | ENSP00000389404.2:n.*486G>T | |
| ENST00000477173.3:n.161+3279G>T | ||
| NM_001135024.1:c.*486G>T | NP_001128496.1:n.*486G>T | |
| NM_001166158.1:c.*486G>T | NP_001159630.1:n.*486G>T | |
| NM_003477.2:c.*486G>T | NP_003468.2:n.*486G>T | |
| XM_011520390.1:c.*486G>T | XP_011518692.1:n.*486G>T | |
| NM_003477.3:c.*486G>T MANE Select | NP_003468.2:n.*486G>T | |
| NM_001135024.2:c.*486G>T | NP_001128496.2:n.*486G>T | |
| NM_001166158.2:c.*486G>T | NP_001159630.1:n.*486G>T |