Linked Data
ClinVar Variation Id:
134756
dbSNP Id:
rs587778494
ExAC:
7:151878049 T / C
gnomAD v2:
7-151878049-T-C
gnomAD v4:
7-152180964-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152180964T>C , CM000669.2:g.152180964T>C | GRCh38 |
| NC_000007.13:g.151878049T>C , CM000669.1:g.151878049T>C | GRCh37 |
| NC_000007.12:g.151508982T>C | NCBI36 |
| NG_033948.1:g.260042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682176.1:c.3615A>G | ||
| ENST00000682283.1:c.6896A>G | ENSP00000507485.1:p.Tyr2299Cys | |
| ENST00000683159.1:c.2206A>G | ||
| ENST00000683200.1:c.4244A>G | ENSP00000508052.1:p.Tyr1415Cys | |
| ENST00000683397.1:c.1631A>G | ENSP00000507053.1:p.Tyr544Cys | |
| ENST00000683625.1:c.1631A>G | ENSP00000507769.1:p.Tyr544Cys | |
| ENST00000683670.1:c.1631A>G | ENSP00000507634.1:p.Tyr544Cys | |
| ENST00000684261.1:c.1631A>G | ENSP00000508097.1:p.Tyr544Cys | |
| ENST00000684307.1:c.1631A>G | ENSP00000507202.1:p.Tyr544Cys | |
| ENST00000684398.1:c.1631A>G | ENSP00000507254.1:p.Tyr544Cys | |
| ENST00000262189.11:c.6896A>G MANE Select | ENSP00000262189.6:p.Tyr2299Cys | |
| ENST00000360104.8:c.2518A>G | ||
| ENST00000558665.2:c.439-838A>G | ENSP00000454058.2:n.439-838A>G | |
| ENST00000679393.1:n.387A>G | ||
| ENST00000679560.1:c.1631A>G | ENSP00000505094.1:p.Tyr544Cys | |
| ENST00000679645.1:c.*2989A>G | ENSP00000505745.1:n.*2989A>G | |
| ENST00000679882.1:c.6671A>G | ENSP00000506154.1:p.Tyr2224Cys | |
| ENST00000680877.1:c.1631A>G | ENSP00000505724.1:p.Tyr544Cys | |
| ENST00000680969.1:c.4292A>G | ENSP00000505951.1:p.Tyr1431Cys | |
| ENST00000681033.1:c.5594A>G | ENSP00000505058.1:p.Tyr1865Cys | |
| ENST00000262189.10:c.6896A>G | ENSP00000262189.6:p.Tyr2299Cys | |
| ENST00000355193.6:c.6896A>G | ENSP00000347325.3:p.Tyr2299Cys | |
| ENST00000473186.5:n.4607A>G | ||
| ENST00000558084.5:c.*4416A>G | ENSP00000453752.1:n.*4416A>G | |
| ENST00000558665.1:c.64-838A>G | ENSP00000454058.1:n.64-838A>G | |
| NM_170606.2:c.6896A>G | NP_733751.2:p.Tyr2299Cys | |
| XM_005250025.3:c.6947A>G | XP_005250082.1:p.Tyr2316Cys | |
| XM_005250026.2:c.6944A>G | XP_005250083.1:p.Tyr2315Cys | |
| XM_005250027.3:c.6947A>G | XP_005250084.1:p.Tyr2316Cys | |
| XM_005250028.3:c.6947A>G | XP_005250085.1:p.Tyr2316Cys | |
| XM_005250031.3:c.6947A>G | XP_005250088.1:p.Tyr2316Cys | |
| XM_006716077.2:c.6947A>G | XP_006716140.1:p.Tyr2316Cys | |
| XM_006716078.2:c.6947A>G | XP_006716141.1:p.Tyr2316Cys | |
| XM_006716079.2:c.6947A>G | XP_006716142.1:p.Tyr2316Cys | |
| XM_011516450.1:c.6899A>G | XP_011514752.1:p.Tyr2300Cys | |
| XM_011516451.1:c.6827A>G | XP_011514753.1:p.Tyr2276Cys | |
| XM_011516452.1:c.6794A>G | XP_011514754.1:p.Tyr2265Cys | |
| XM_011516453.1:c.6947A>G | XP_011514755.1:p.Tyr2316Cys | |
| XM_011516454.1:c.6032A>G | XP_011514756.1:p.Tyr2011Cys | |
| XM_011516455.1:c.4493A>G | XP_011514757.1:p.Tyr1498Cys | |
| XM_011516456.1:c.6899A>G | XP_011514758.1:p.Tyr2300Cys | |
| XR_428183.2:n.7155A>G | ||
| XM_005250025.4:c.6947A>G | XP_005250082.1:p.Tyr2316Cys | |
| XM_005250026.3:c.6944A>G | XP_005250083.1:p.Tyr2315Cys | |
| XM_005250027.4:c.6947A>G | XP_005250084.1:p.Tyr2316Cys | |
| XM_005250028.4:c.6947A>G | XP_005250085.1:p.Tyr2316Cys | |
| XM_005250031.4:c.6947A>G | XP_005250088.1:p.Tyr2316Cys | |
| XM_006716077.3:c.6947A>G | XP_006716140.1:p.Tyr2316Cys | |
| XM_006716078.3:c.6947A>G | XP_006716141.1:p.Tyr2316Cys | |
| XM_006716079.3:c.6947A>G | XP_006716142.1:p.Tyr2316Cys | |
| XM_011516450.2:c.6899A>G | XP_011514752.1:p.Tyr2300Cys | |
| XM_011516451.2:c.6827A>G | XP_011514753.1:p.Tyr2276Cys | |
| XM_011516452.2:c.6794A>G | XP_011514754.1:p.Tyr2265Cys | |
| XM_011516453.2:c.6947A>G | XP_011514755.1:p.Tyr2316Cys | |
| XM_011516454.2:c.6032A>G | XP_011514756.1:p.Tyr2011Cys | |
| XM_011516456.2:c.6899A>G | XP_011514758.1:p.Tyr2300Cys | |
| XM_017012480.1:c.6947A>G | XP_016867969.1:p.Tyr2316Cys | |
| XM_017012481.1:c.6944A>G | XP_016867970.1:p.Tyr2315Cys | |
| XM_017012482.1:c.6947A>G | XP_016867971.1:p.Tyr2316Cys | |
| XM_017012483.1:c.6947A>G | XP_016867972.1:p.Tyr2316Cys | |
| XM_017012484.1:c.6914A>G | XP_016867973.1:p.Tyr2305Cys | |
| XM_017012485.1:c.6896A>G | XP_016867974.1:p.Tyr2299Cys | |
| XM_017012486.1:c.6947A>G | XP_016867975.1:p.Tyr2316Cys | |
| XM_017012487.1:c.6800A>G | XP_016867976.1:p.Tyr2267Cys | |
| XM_017012488.1:c.6764A>G | XP_016867977.1:p.Tyr2255Cys | |
| XM_017012489.1:c.3617A>G | XP_016867978.1:p.Tyr1206Cys | |
| XM_017012490.2:c.3221A>G | XP_016867979.1:p.Tyr1074Cys | |
| XM_024446852.1:c.6944A>G | XP_024302620.1:p.Tyr2315Cys | |
| XM_024446853.1:c.6947A>G | XP_024302621.1:p.Tyr2316Cys | |
| XR_428183.3:n.7179A>G | ||
| NM_170606.3:c.6896A>G MANE Select | NP_733751.2:p.Tyr2299Cys |