Linked Data
ClinVar Variation Id:
2524605
ClinVar RCV Id:
RCV004304274
dbSNP Id:
rs183777284
ExAC:
2:85824593 G / A
gnomAD v2:
2-85824593-G-A
gnomAD v3:
2-85597470-G-A
gnomAD v4:
2-85597470-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85597470G>A , CM000664.2:g.85597470G>A | GRCh38 |
| NC_000002.11:g.85824593G>A , CM000664.1:g.85824593G>A | GRCh37 |
| NC_000002.10:g.85678104G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306368.9:c.428G>A MANE Select | ENSP00000306906.4:p.Arg143Gln | |
| ENST00000306368.8:c.428G>A | ENSP00000306906.4:p.Arg143Gln | |
| ENST00000441634.5:c.*274G>A | ENSP00000412025.1:n.*274G>A | |
| ENST00000443647.5:c.*156G>A | ENSP00000391326.1:n.*156G>A | |
| ENST00000456023.1:c.416G>A | ||
| NM_016494.3:c.428G>A | NP_057578.1:p.Arg143Gln | |
| XM_005264359.3:c.469G>A | XP_005264416.1:p.Asp157Asn | |
| XM_005264359.4:c.469G>A | XP_005264416.1:p.Asp157Asn | |
| NM_016494.4:c.428G>A MANE Select | NP_057578.1:p.Arg143Gln |