Linked Data
ClinVar Variation Id:
1383
ClinVar RCV Id:
RCV000001452
RCV000001451
RCV000283682
RCV000234823
RCV000415055
RCV000479077
RCV000534533
RCV000623857
RCV000627004
RCV000763610
RCV001197497
dbSNP Id:
rs201893408
ExAC:
8:94808198 T / C
gnomAD v2:
8-94808198-T-C
gnomAD v3:
8-93795970-T-C
gnomAD v4:
8-93795970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93795970T>C , CM000670.2:g.93795970T>C | GRCh38 |
| NC_000008.10:g.94808198T>C , CM000670.1:g.94808198T>C | GRCh37 |
| NC_000008.9:g.94877374T>C | NCBI36 |
| NG_009190.1:g.46127T>C , LRG_688:g.46127T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1843T>C | ENSP00000314488.4:p.Cys615Arg | |
| ENST00000409623.8:c.1798T>C | ENSP00000386966.4:p.Cys600Arg | |
| ENST00000452276.6:c.1843T>C | ENSP00000388671.2:p.Cys615Arg | |
| ENST00000453906.6:c.961T>C | ENSP00000403035.2:p.Cys321Arg | |
| ENST00000518896.2:c.109T>C | ENSP00000507992.1:p.Cys37Arg | |
| ENST00000520680.2:c.1966T>C | ENSP00000428785.2:p.Cys656Arg | |
| ENST00000521517.6:c.1744T>C | ENSP00000430740.2:p.Cys582Arg | |
| ENST00000681998.1:c.1664T>C | ENSP00000506773.1:n.1664T>C | |
| ENST00000682036.1:c.1084T>C | ENSP00000508390.1:p.Cys362Arg | |
| ENST00000682577.1:c.1616T>C | ENSP00000506963.1:n.1616T>C | |
| ENST00000682624.1:c.*1417T>C | ENSP00000508343.1:n.*1417T>C | |
| ENST00000682700.1:c.1843T>C | ENSP00000507627.1:p.Cys615Arg | |
| ENST00000682744.1:n.1381T>C | ||
| ENST00000682804.1:n.1666T>C | ||
| ENST00000682837.1:c.1332T>C | ENSP00000507920.1:n.1332T>C | |
| ENST00000682935.1:n.3893T>C | ||
| ENST00000682984.1:c.1504T>C | ENSP00000507209.1:p.Cys502Arg | |
| ENST00000683078.1:c.1598T>C | ENSP00000506796.1:n.1598T>C | |
| ENST00000683223.1:c.1575T>C | ENSP00000507685.1:n.1575T>C | |
| ENST00000683238.1:n.3067T>C | ||
| ENST00000683249.1:n.3440T>C | ||
| ENST00000683336.1:c.1664T>C | ENSP00000507695.1:n.1664T>C | |
| ENST00000683362.1:c.1504T>C | ENSP00000506985.1:p.Cys502Arg | |
| ENST00000683850.1:n.1766T>C | ||
| ENST00000683919.1:c.1773T>C | ENSP00000507617.1:n.1773T>C | |
| ENST00000683953.1:c.1754T>C | ENSP00000508375.1:n.1754T>C | |
| ENST00000684023.1:c.1820T>C | ENSP00000507461.1:n.1820T>C | |
| ENST00000684064.1:c.1534T>C | ENSP00000508192.1:p.Cys512Arg | |
| ENST00000684089.1:n.3393T>C | ||
| ENST00000684149.1:c.*1022T>C | ENSP00000507943.1:n.*1022T>C | |
| ENST00000684343.1:c.40T>C | ENSP00000507591.1:p.Cys14Arg | |
| ENST00000684416.1:n.1802T>C | ||
| ENST00000684540.1:c.1773T>C | ENSP00000507987.1:n.1773T>C | |
| ENST00000453321.8:c.1843T>C MANE Select | ENSP00000389998.3:p.Cys615Arg | |
| ENST00000323130.7:c.1813T>C | ENSP00000314488.3:p.Cys605Arg | |
| ENST00000409623.7:c.1600T>C | ENSP00000386966.3:p.Cys534Arg | |
| ENST00000453321.7:c.1843T>C | ENSP00000389998.3:p.Cys615Arg | |
| ENST00000474944.5:n.981T>C | ||
| ENST00000519845.5:n.575T>C | ||
| ENST00000523230.5:n.378T>C | ||
| NM_001142301.1:c.1600T>C , LRG_688t2:c.1600T>C | NP_001135773.1:p.Cys534Arg | |
| NM_153704.5:c.1843T>C , LRG_688t1:c.1843T>C | NP_714915.3:p.Cys615Arg | |
| NR_024522.1:n.1914T>C | ||
| XM_006716686.2:c.1540T>C | XP_006716749.1:p.Cys514Arg | |
| XM_006716687.2:c.1243T>C | XP_006716750.1:p.Cys415Arg | |
| XM_011517363.1:c.961T>C | XP_011515665.1:p.Cys321Arg | |
| XR_428387.1:n.1901T>C | ||
| XR_928360.1:n.1901T>C | ||
| XR_928361.1:n.1901T>C | ||
| XR_928362.1:n.1901T>C | ||
| XM_006716686.4:c.1540T>C | XP_006716749.1:p.Cys514Arg | |
| XM_011517363.3:c.961T>C | XP_011515665.1:p.Cys321Arg | |
| XM_024447326.1:c.1189T>C | XP_024303094.1:p.Cys397Arg | |
| XR_001745619.2:n.1884T>C | ||
| XR_428387.2:n.1884T>C | ||
| XR_928360.3:n.1884T>C | ||
| XR_928362.3:n.1884T>C | ||
| NM_153704.6:c.1843T>C MANE Select | NP_714915.3:p.Cys615Arg | |
| NR_024522.2:n.1864T>C |