Linked Data
ClinVar Variation Id:
1616645
ClinVar RCV Id:
RCV002084463
dbSNP Id:
rs1178809115
gnomAD v2:
20-32026789-G-A
gnomAD v4:
20-33438983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438983G>A , CM000682.2:g.33438983G>A | GRCh38 |
| NC_000020.10:g.32026789G>A , CM000682.1:g.32026789G>A | GRCh37 |
| NC_000020.9:g.31490450G>A | NCBI36 |
| NG_011622.1:g.9910C>T , LRG_332:g.9910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.354C>T MANE Select | ENSP00000217381.2:p.Phe118= | |
| ENST00000217381.2:c.354C>T | ENSP00000217381.2:p.Phe118= | |
| NM_003098.2:c.354C>T , LRG_332t1:c.354C>T | NP_003089.1:p.Phe118= | |
| XM_005260517.1:c.354C>T | XP_005260574.1:p.Phe118= | |
| XM_011529007.1:c.354C>T | XP_011527309.1:p.Phe118= | |
| XM_011529008.1:c.354C>T | XP_011527310.1:p.Phe118= | |
| XR_936612.1:n.587C>T | ||
| XM_024451971.1:c.27C>T | XP_024307739.1:p.Phe9= | |
| NM_003098.3:c.354C>T MANE Select | NP_003089.1:p.Phe118= |