Linked Data
ClinVar Variation Id:
1731154
ClinVar RCV Id:
RCV002452149
dbSNP Id:
rs376756802
ExAC:
20:32026803 T / A
gnomAD v2:
20-32026803-T-A
gnomAD v3:
20-33438997-T-A
gnomAD v4:
20-33438997-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438997T>A , CM000682.2:g.33438997T>A | GRCh38 |
| NC_000020.10:g.32026803T>A , CM000682.1:g.32026803T>A | GRCh37 |
| NC_000020.9:g.31490464T>A | NCBI36 |
| NG_011622.1:g.9896A>T , LRG_332:g.9896A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.340A>T MANE Select | ENSP00000217381.2:p.Ile114Phe | |
| ENST00000217381.2:c.340A>T | ENSP00000217381.2:p.Ile114Phe | |
| NM_003098.2:c.340A>T , LRG_332t1:c.340A>T | NP_003089.1:p.Ile114Phe | |
| XM_005260517.1:c.340A>T | XP_005260574.1:p.Ile114Phe | |
| XM_011529007.1:c.340A>T | XP_011527309.1:p.Ile114Phe | |
| XM_011529008.1:c.340A>T | XP_011527310.1:p.Ile114Phe | |
| XR_936612.1:n.573A>T | ||
| XM_024451971.1:c.13A>T | XP_024307739.1:p.Ile5Phe | |
| NM_003098.3:c.340A>T MANE Select | NP_003089.1:p.Ile114Phe |