Linked Data
ClinVar Variation Id:
525566
ClinVar RCV Id:
RCV000629645
dbSNP Id:
rs144996547
ExAC:
21:43896111 G / A
gnomAD v2:
21-43896111-G-A
gnomAD v3:
21-42476001-G-A
gnomAD v4:
21-42476001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42476001G>A , CM000683.2:g.42476001G>A | GRCh38 |
| NC_000021.8:g.43896111G>A , CM000683.1:g.43896111G>A | GRCh37 |
| NC_000021.7:g.42769180G>A | NCBI36 |
| NG_034257.1:g.25354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.774C>T MANE Select | ENSP00000291536.3:p.Phe258= | |
| ENST00000291536.7:c.774C>T | ENSP00000291536.3:p.Phe258= | |
| ENST00000398352.3:c.660C>T | ENSP00000381395.3:p.Phe220= | |
| ENST00000493019.1:n.2392C>T | ||
| NM_001286506.1:c.660C>T | NP_001273435.1:p.Phe220= | |
| NM_080860.3:c.774C>T | NP_543136.1:p.Phe258= | |
| XM_005261208.1:c.567C>T | XP_005261265.1:p.Phe189= | |
| XM_011529786.1:c.702C>T | XP_011528088.1:p.Phe234= | |
| XM_005261208.2:c.567C>T | XP_005261265.1:p.Phe189= | |
| NM_080860.4:c.774C>T MANE Select | NP_543136.1:p.Phe258= | |
| NM_001286506.2:c.660C>T | NP_001273435.1:p.Phe220= |