Linked Data
ClinVar Variation Id:
11745
dbSNP Id:
rs122445111
PubMed:
PMID:1415255
PMID:6711605
PMID:10398237
PMID:10417298
PMID:10570185
PMID:10602370
PMID:11015451
PMID:11050622
PMID:12032728
PMID:12116232
PMID:12673795
PMID:12858175
PMID:16118346
PMID:16722615
PMID:16813605
PMID:18409179
PMID:19005673
PMID:21653732
PMID:24289169
PMID:24805811
PMID:28371197
PMID:28371217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77684942C>T , CM000685.2:g.77684942C>T | GRCh38 |
| NC_000023.10:g.76940434C>T , CM000685.1:g.76940434C>T | GRCh37 |
| NC_000023.9:g.76827090C>T | NCBI36 |
| NG_008838.2:g.106280G>A | |
| NG_008838.3:g.106328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.659G>A MANE Select | ENSP00000362441.4:p.Cys220Tyr | |
| ENST00000373344.9:c.659G>A | ENSP00000362441.4:p.Cys220Tyr | |
| ENST00000395603.7:c.545G>A | ENSP00000378967.3:p.Cys182Tyr | |
| ENST00000480283.5:c.*287G>A | ENSP00000480196.1:n.*287G>A | |
| ENST00000623321.3:c.494G>A | ENSP00000485127.1:p.Cys165Tyr | |
| ENST00000624032.3:c.659G>A | ENSP00000485253.1:p.Cys220Tyr | |
| ENST00000624166.3:c.542G>A | ENSP00000485103.1:p.Cys181Tyr | |
| ENST00000625063.3:c.474G>A | ||
| NM_000489.4:c.659G>A | NP_000480.3:p.Cys220Tyr | |
| NM_138270.3:c.545G>A | NP_612114.2:p.Cys182Tyr | |
| XM_005262153.3:c.656G>A | XP_005262210.2:p.Cys219Tyr | |
| XM_005262154.3:c.659G>A | XP_005262211.2:p.Cys220Tyr | |
| XM_005262155.3:c.542G>A | XP_005262212.2:p.Cys181Tyr | |
| XM_005262156.3:c.494G>A | XP_005262213.2:p.Cys165Tyr | |
| XM_005262157.3:c.542G>A | XP_005262214.2:p.Cys181Tyr | |
| XM_006724666.2:c.542G>A | XP_006724729.1:p.Cys181Tyr | |
| XM_006724667.2:c.380G>A | XP_006724730.1:p.Cys127Tyr | |
| XM_006724668.2:c.659G>A | XP_006724731.1:p.Cys220Tyr | |
| XR_938400.1:n.927G>A | ||
| NM_000489.5:c.659G>A | NP_000480.3:p.Cys220Tyr | |
| XM_005262153.5:c.656G>A | XP_005262210.2:p.Cys219Tyr | |
| XM_005262154.5:c.659G>A | XP_005262211.2:p.Cys220Tyr | |
| XM_005262155.4:c.542G>A | XP_005262212.2:p.Cys181Tyr | |
| XM_005262156.4:c.494G>A | XP_005262213.2:p.Cys165Tyr | |
| XM_005262157.5:c.542G>A | XP_005262214.2:p.Cys181Tyr | |
| XM_006724666.4:c.542G>A | XP_006724729.1:p.Cys181Tyr | |
| XM_006724667.3:c.380G>A | XP_006724730.1:p.Cys127Tyr | |
| XM_006724668.3:c.659G>A | XP_006724731.1:p.Cys220Tyr | |
| XM_017029601.2:c.656G>A | XP_016885090.1:p.Cys219Tyr | |
| XM_017029602.1:c.539G>A | XP_016885091.1:p.Cys180Tyr | |
| XM_017029603.1:c.491G>A | XP_016885092.1:p.Cys164Tyr | |
| XM_017029604.2:c.545G>A | XP_016885093.1:p.Cys182Tyr | |
| XM_017029605.1:c.542G>A | XP_016885094.1:p.Cys181Tyr | |
| XM_017029606.2:c.428G>A | XP_016885095.1:p.Cys143Tyr | |
| XM_017029607.2:c.425G>A | XP_016885096.1:p.Cys142Tyr | |
| XM_017029608.2:c.377G>A | XP_016885097.1:p.Cys126Tyr | |
| XM_017029609.1:c.428G>A | XP_016885098.1:p.Cys143Tyr | |
| XM_017029610.1:c.425G>A | XP_016885099.1:p.Cys142Tyr | |
| XM_017029611.1:c.380G>A | XP_016885100.1:p.Cys127Tyr | |
| XR_001755700.2:n.884G>A | ||
| NM_138270.4:c.545G>A | NP_612114.2:p.Cys182Tyr | |
| NM_000489.6:c.659G>A MANE Select | NP_000480.3:p.Cys220Tyr | |
| NM_138270.5:c.545G>A | NP_612114.2:p.Cys182Tyr |