Linked Data
ClinVar Variation Id:
397524
ClinVar RCV Id:
RCV000449558
dbSNP Id:
rs1060499658
PubMed:
PMID:24759409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77589929C>T , CM000685.2:g.77589929C>T | GRCh38 |
| NC_000023.10:g.76845399C>T , CM000685.1:g.76845399C>T | GRCh37 |
| NC_000023.9:g.76732055C>T | NCBI36 |
| NG_008838.2:g.201293G>A | |
| NG_008838.3:g.201341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6122G>A MANE Select | ENSP00000362441.4:p.Ser2041Asn | |
| ENST00000675732.1:c.1220G>A | ENSP00000502598.1:p.Ser407Asn | |
| ENST00000373344.9:c.6122G>A | ENSP00000362441.4:p.Ser2041Asn | |
| ENST00000395603.7:c.6008G>A | ENSP00000378967.3:p.Ser2003Asn | |
| ENST00000480283.5:c.*5750G>A | ENSP00000480196.1:n.*5750G>A | |
| ENST00000623316.1:c.606G>A | ||
| ENST00000623706.3:n.3192G>A | ||
| NM_000489.4:c.6122G>A | NP_000480.3:p.Ser2041Asn | |
| NM_138270.3:c.6008G>A | NP_612114.2:p.Ser2003Asn | |
| XM_005262153.3:c.6119G>A | XP_005262210.2:p.Ser2040Asn | |
| XM_005262154.3:c.6035G>A | XP_005262211.2:p.Ser2012Asn | |
| XM_005262155.3:c.6005G>A | XP_005262212.2:p.Ser2002Asn | |
| XM_005262156.3:c.5957G>A | XP_005262213.2:p.Ser1986Asn | |
| XM_005262157.3:c.5918G>A | XP_005262214.2:p.Ser1973Asn | |
| XM_006724666.2:c.6005G>A | XP_006724729.1:p.Ser2002Asn | |
| XM_006724667.2:c.5843G>A | XP_006724730.1:p.Ser1948Asn | |
| XR_938400.1:n.6464G>A | ||
| NM_000489.5:c.6122G>A | NP_000480.3:p.Ser2041Asn | |
| XM_005262153.5:c.6119G>A | XP_005262210.2:p.Ser2040Asn | |
| XM_005262154.5:c.6035G>A | XP_005262211.2:p.Ser2012Asn | |
| XM_005262155.4:c.6005G>A | XP_005262212.2:p.Ser2002Asn | |
| XM_005262156.4:c.5957G>A | XP_005262213.2:p.Ser1986Asn | |
| XM_005262157.5:c.5918G>A | XP_005262214.2:p.Ser1973Asn | |
| XM_006724666.4:c.6005G>A | XP_006724729.1:p.Ser2002Asn | |
| XM_006724667.3:c.5843G>A | XP_006724730.1:p.Ser1948Asn | |
| XM_017029601.2:c.6032G>A | XP_016885090.1:p.Ser2011Asn | |
| XM_017029602.1:c.6002G>A | XP_016885091.1:p.Ser2001Asn | |
| XM_017029603.1:c.5954G>A | XP_016885092.1:p.Ser1985Asn | |
| XM_017029604.2:c.5921G>A | XP_016885093.1:p.Ser1974Asn | |
| XM_017029605.1:c.5918G>A | XP_016885094.1:p.Ser1973Asn | |
| XM_017029606.2:c.5891G>A | XP_016885095.1:p.Ser1964Asn | |
| XM_017029607.2:c.5888G>A | XP_016885096.1:p.Ser1963Asn | |
| XM_017029608.2:c.5840G>A | XP_016885097.1:p.Ser1947Asn | |
| XM_017029609.1:c.5804G>A | XP_016885098.1:p.Ser1935Asn | |
| XM_017029610.1:c.5801G>A | XP_016885099.1:p.Ser1934Asn | |
| XM_017029611.1:c.5756G>A | XP_016885100.1:p.Ser1919Asn | |
| XR_001755700.2:n.6421G>A | ||
| NM_138270.4:c.6008G>A | NP_612114.2:p.Ser2003Asn | |
| NM_000489.6:c.6122G>A MANE Select | NP_000480.3:p.Ser2041Asn | |
| NM_138270.5:c.6008G>A | NP_612114.2:p.Ser2003Asn |