Linked Data
ClinVar Variation Id:
289875
ClinVar RCV Id:
RCV000360260
dbSNP Id:
rs886044298
gnomAD v2:
22-46748205-T-A
gnomAD v3:
22-46352308-T-A
gnomAD v4:
22-46352308-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46352308T>A , CM000684.2:g.46352308T>A | GRCh38 |
| NC_000022.10:g.46748205T>A , CM000684.1:g.46748205T>A | GRCh37 |
| NC_000022.9:g.45126869T>A | NCBI36 |
| NG_012173.1:g.21908T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465378.6:n.798T>A | ||
| ENST00000642923.1:c.645T>A | ENSP00000494255.1:p.Asn215Lys | |
| ENST00000643137.1:c.645T>A | ENSP00000495331.1:p.Asn215Lys | |
| ENST00000644006.1:c.*194T>A | ENSP00000493778.1:n.*194T>A | |
| ENST00000645026.1:n.801T>A | ||
| ENST00000645190.1:c.750T>A MANE Select | ENSP00000496496.1:p.Asn250Lys | |
| ENST00000647301.1:c.*194T>A | ENSP00000496641.1:n.*194T>A | |
| ENST00000290846.8:c.750T>A | ENSP00000290846.4:p.Asn250Lys | |
| ENST00000381019.3:c.750T>A | ENSP00000370407.3:p.Asn250Lys | |
| ENST00000381021.7:c.*343T>A | ENSP00000370409.3:n.*343T>A | |
| ENST00000441818.5:c.*284T>A | ENSP00000393014.1:n.*284T>A | |
| ENST00000453630.5:c.*288T>A | ENSP00000398488.1:n.*288T>A | |
| ENST00000456595.5:c.*284T>A | ENSP00000413880.1:n.*284T>A | |
| ENST00000457572.5:c.*194T>A | ENSP00000407700.1:n.*194T>A | |
| ENST00000463785.1:n.218T>A | ||
| ENST00000479648.1:n.570T>A | ||
| ENST00000485175.5:n.710T>A | ||
| ENST00000486620.5:n.792T>A | ||
| NM_001282782.1:c.408T>A | NP_001269711.1:p.Asn136Lys | |
| NM_001282783.1:c.330T>A | NP_001269712.1:p.Asn110Lys | |
| NM_001282784.1:c.330T>A | NP_001269713.1:p.Asn110Lys | |
| NM_001282785.1:c.750T>A | NP_001269714.1:p.Asn250Lys | |
| NM_018006.4:c.750T>A | NP_060476.2:p.Asn250Lys | |
| NR_104240.1:n.1059T>A | ||
| NR_104241.1:n.952T>A | ||
| XM_005261678.1:c.354T>A | XP_005261735.1:p.Asn118Lys | |
| XM_005261681.1:c.354T>A | XP_005261738.1:p.Asn118Lys | |
| XM_011530271.1:c.645T>A | XP_011528573.1:p.Asn215Lys | |
| XM_011530272.1:c.750T>A | XP_011528574.1:p.Asn250Lys | |
| XM_011530273.1:c.750T>A | XP_011528575.1:p.Asn250Lys | |
| XM_011530274.1:c.408T>A | XP_011528576.1:p.Asn136Lys | |
| XM_011530275.1:c.354T>A | XP_011528577.1:p.Asn118Lys | |
| XM_011530271.2:c.645T>A | XP_011528573.1:p.Asn215Lys | |
| XM_011530272.2:c.750T>A | XP_011528574.1:p.Asn250Lys | |
| XM_011530273.2:c.750T>A | XP_011528575.1:p.Asn250Lys | |
| XM_011530274.2:c.408T>A | XP_011528576.1:p.Asn136Lys | |
| XM_024452260.1:c.645T>A | XP_024308028.1:p.Asn215Lys | |
| XR_001755261.2:n.796T>A | ||
| XR_001755262.2:n.796T>A | ||
| NM_018006.5:c.750T>A MANE Select | NP_060476.2:p.Asn250Lys | |
| NM_001282782.2:c.408T>A | NP_001269711.1:p.Asn136Lys | |
| NM_001282783.2:c.330T>A | NP_001269712.1:p.Asn110Lys | |
| NM_001282784.2:c.330T>A | NP_001269713.1:p.Asn110Lys | |
| NM_001282785.2:c.750T>A | NP_001269714.1:p.Asn250Lys | |
| NR_104240.2:n.746T>A | ||
| NR_104241.2:n.639T>A |