Linked Data
ClinVar Variation Id:
11722
ClinVar RCV Id:
RCV000012488
dbSNP Id:
rs122445094
PubMed:
PMID:7697714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77633682A>G , CM000685.2:g.77633682A>G | GRCh38 |
| NC_000023.10:g.76889170A>G , CM000685.1:g.76889170A>G | GRCh37 |
| NC_000023.9:g.76775826A>G | NCBI36 |
| NG_008838.2:g.157540T>C | |
| NG_008838.3:g.157588T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4840T>C MANE Select | ENSP00000362441.4:p.Cys1614Arg | |
| ENST00000675732.1:c.-63T>C | ENSP00000502598.1:n.-63T>C | |
| ENST00000675908.1:n.575T>C | ||
| ENST00000373344.9:c.4840T>C | ENSP00000362441.4:p.Cys1614Arg | |
| ENST00000395603.7:c.4726T>C | ENSP00000378967.3:p.Cys1576Arg | |
| ENST00000480283.5:c.*4468T>C | ENSP00000480196.1:n.*4468T>C | |
| ENST00000623242.3:c.577T>C | ||
| ENST00000624403.1:n.184T>C | ||
| NM_000489.4:c.4840T>C | NP_000480.3:p.Cys1614Arg | |
| NM_138270.3:c.4726T>C | NP_612114.2:p.Cys1576Arg | |
| XM_005262153.3:c.4837T>C | XP_005262210.2:p.Cys1613Arg | |
| XM_005262154.3:c.4753T>C | XP_005262211.2:p.Cys1585Arg | |
| XM_005262155.3:c.4723T>C | XP_005262212.2:p.Cys1575Arg | |
| XM_005262156.3:c.4675T>C | XP_005262213.2:p.Cys1559Arg | |
| XM_005262157.3:c.4636T>C | XP_005262214.2:p.Cys1546Arg | |
| XM_006724666.2:c.4723T>C | XP_006724729.1:p.Cys1575Arg | |
| XM_006724667.2:c.4561T>C | XP_006724730.1:p.Cys1521Arg | |
| XM_006724668.2:c.4840T>C | XP_006724731.1:p.Cys1614Arg | |
| XR_938400.1:n.5108T>C | ||
| NM_000489.5:c.4840T>C | NP_000480.3:p.Cys1614Arg | |
| XM_005262153.5:c.4837T>C | XP_005262210.2:p.Cys1613Arg | |
| XM_005262154.5:c.4753T>C | XP_005262211.2:p.Cys1585Arg | |
| XM_005262155.4:c.4723T>C | XP_005262212.2:p.Cys1575Arg | |
| XM_005262156.4:c.4675T>C | XP_005262213.2:p.Cys1559Arg | |
| XM_005262157.5:c.4636T>C | XP_005262214.2:p.Cys1546Arg | |
| XM_006724666.4:c.4723T>C | XP_006724729.1:p.Cys1575Arg | |
| XM_006724667.3:c.4561T>C | XP_006724730.1:p.Cys1521Arg | |
| XM_006724668.3:c.4840T>C | XP_006724731.1:p.Cys1614Arg | |
| XM_017029601.2:c.4750T>C | XP_016885090.1:p.Cys1584Arg | |
| XM_017029602.1:c.4720T>C | XP_016885091.1:p.Cys1574Arg | |
| XM_017029603.1:c.4672T>C | XP_016885092.1:p.Cys1558Arg | |
| XM_017029604.2:c.4639T>C | XP_016885093.1:p.Cys1547Arg | |
| XM_017029605.1:c.4636T>C | XP_016885094.1:p.Cys1546Arg | |
| XM_017029606.2:c.4609T>C | XP_016885095.1:p.Cys1537Arg | |
| XM_017029607.2:c.4606T>C | XP_016885096.1:p.Cys1536Arg | |
| XM_017029608.2:c.4558T>C | XP_016885097.1:p.Cys1520Arg | |
| XM_017029609.1:c.4522T>C | XP_016885098.1:p.Cys1508Arg | |
| XM_017029610.1:c.4519T>C | XP_016885099.1:p.Cys1507Arg | |
| XM_017029611.1:c.4474T>C | XP_016885100.1:p.Cys1492Arg | |
| XR_001755700.2:n.5065T>C | ||
| NM_138270.4:c.4726T>C | NP_612114.2:p.Cys1576Arg | |
| NM_000489.6:c.4840T>C MANE Select | NP_000480.3:p.Cys1614Arg | |
| NM_138270.5:c.4726T>C | NP_612114.2:p.Cys1576Arg |