Linked Data
ClinVar Variation Id:
64491
ClinVar RCV Id:
RCV000054678
dbSNP Id:
rs387907413
ExAC:
13:96212673 C / A
gnomAD v2:
13-96212673-C-A
gnomAD v3:
13-95560419-C-A
gnomAD v4:
13-95560419-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95560419C>A , CM000675.2:g.95560419C>A | GRCh38 |
| NC_000013.10:g.96212673C>A , CM000675.1:g.96212673C>A | GRCh37 |
| NC_000013.9:g.95010674C>A | NCBI36 |
| NG_047100.1:g.131821C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299339.3:c.420C>A MANE Select | ENSP00000299339.2:p.Asn140Lys | |
| ENST00000299339.2:c.420C>A | ENSP00000299339.2:p.Asn140Lys | |
| ENST00000376855.1:c.174C>A | ENSP00000366051.1:p.Asn58Lys | |
| ENST00000376873.7:c.414C>A | ENSP00000366069.2:p.Asn138Lys | |
| NM_001160100.1:c.357C>A | NP_001153572.1:p.Asn119Lys | |
| NM_006984.4:c.420C>A | NP_008915.1:p.Asn140Lys | |
| NM_182848.3:c.414C>A | NP_878268.1:p.Asn138Lys | |
| XM_011521134.1:c.510C>A | XP_011519436.1:p.Asn170Lys | |
| XM_011521134.2:c.510C>A | XP_011519436.1:p.Asn170Lys | |
| XM_017020843.1:c.540C>A | XP_016876332.1:p.Asn180Lys | |
| XM_017020844.1:c.504C>A | XP_016876333.1:p.Asn168Lys | |
| XM_024449432.1:c.174C>A | XP_024305200.1:p.Asn58Lys | |
| NM_006984.5:c.420C>A MANE Select | NP_008915.1:p.Asn140Lys | |
| NM_001160100.2:c.357C>A | NP_001153572.1:p.Asn119Lys | |
| NM_182848.4:c.414C>A | NP_878268.1:p.Asn138Lys |