Linked Data
ClinVar Variation Id:
1734835
ClinVar RCV Id:
RCV002363882
dbSNP Id:
rs1186334279
gnomAD v2:
20-32026766-G-A
gnomAD v3:
20-33438960-G-A
gnomAD v4:
20-33438960-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438960G>A , CM000682.2:g.33438960G>A | GRCh38 |
| NC_000020.10:g.32026766G>A , CM000682.1:g.32026766G>A | GRCh37 |
| NC_000020.9:g.31490427G>A | NCBI36 |
| NG_011622.1:g.9933C>T , LRG_332:g.9933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.377C>T MANE Select | ENSP00000217381.2:p.Thr126Ile | |
| ENST00000217381.2:c.377C>T | ENSP00000217381.2:p.Thr126Ile | |
| NM_003098.2:c.377C>T , LRG_332t1:c.377C>T | NP_003089.1:p.Thr126Ile | |
| XM_005260517.1:c.377C>T | XP_005260574.1:p.Thr126Ile | |
| XM_011529007.1:c.377C>T | XP_011527309.1:p.Thr126Ile | |
| XM_011529008.1:c.377C>T | XP_011527310.1:p.Thr126Ile | |
| XR_936612.1:n.610C>T | ||
| XM_024451971.1:c.50C>T | XP_024307739.1:p.Thr17Ile | |
| NM_003098.3:c.377C>T MANE Select | NP_003089.1:p.Thr126Ile |