Linked Data
ClinVar Variation Id:
338211
dbSNP Id:
rs559827815
ExAC:
20:31996352 G / A
gnomAD v2:
20-31996352-G-A
gnomAD v3:
20-33408546-G-A
gnomAD v4:
20-33408546-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408546G>A , CM000682.2:g.33408546G>A | GRCh38 |
| NC_000020.10:g.31996352G>A , CM000682.1:g.31996352G>A | GRCh37 |
| NC_000020.9:g.31460013G>A | NCBI36 |
| NG_011622.1:g.40347C>T , LRG_332:g.40347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.1479C>T MANE Select | ENSP00000217381.2:p.Phe493= | |
| ENST00000217381.2:c.1479C>T | ENSP00000217381.2:p.Phe493= | |
| NM_003098.2:c.1479C>T , LRG_332t1:c.1479C>T | NP_003089.1:p.Phe493= | |
| XM_005260517.1:c.1476C>T | XP_005260574.1:p.Phe492= | |
| XM_011529007.1:c.*20C>T | XP_011527309.1:n.*20C>T | |
| XM_011529008.1:c.*20C>T | XP_011527310.1:n.*20C>T | |
| XR_936612.1:n.1515C>T | ||
| XM_024451971.1:c.1152C>T | XP_024307739.1:p.Phe384= | |
| NM_003098.3:c.1479C>T MANE Select | NP_003089.1:p.Phe493= |