Linked Data
ClinVar Variation Id:
208853
ClinVar RCV Id:
RCV000190889
RCV000439869
RCV001027793
RCV001257603
RCV000999745
RCV001775095
RCV002319460
RCV002503749
RCV002273979
RCV003468878
RCV004553045
dbSNP Id:
rs797045139
gnomAD v3:
17-31327718-C-T
gnomAD v4:
17-31327718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31327718C>T , CM000679.2:g.31327718C>T | GRCh38 |
| NC_000017.10:g.29654736C>T , CM000679.1:g.29654736C>T | GRCh37 |
| NC_000017.9:g.26678862C>T | NCBI36 |
| NG_009018.1:g.237742C>T , LRG_214:g.237742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1676C>T | ENSP00000492721.2:n.1676C>T | |
| ENST00000696138.1:c.5470C>T | ENSP00000512431.1:p.Arg1824Cys | |
| ENST00000684826.1:c.52C>T | ENSP00000509994.1:p.Arg18Cys | |
| ENST00000687027.1:c.-236+1466C>T | ENSP00000508715.1:n.-236+1466C>T | |
| ENST00000687863.1:n.2133C>T | ||
| ENST00000691014.1:c.5518C>T | ENSP00000510595.1:p.Arg1840Cys | |
| ENST00000693617.1:c.52C>T | ENSP00000510031.1:p.Arg18Cys | |
| ENST00000358273.9:c.5488C>T MANE Select | ENSP00000351015.4:p.Arg1830Cys | |
| ENST00000356175.7:c.5425C>T | ENSP00000348498.3:p.Arg1809Cys | |
| ENST00000358273.8:c.5488C>T | ENSP00000351015.4:p.Arg1830Cys | |
| ENST00000456735.6:c.4423C>T | ENSP00000389907.2:p.Arg1475Cys | |
| ENST00000493220.5:n.3961C>T | ||
| ENST00000579081.5:c.5624C>T | ENSP00000462408.1:n.5624C>T | |
| ENST00000581113.6:n.805C>T | ||
| NM_000267.3:c.5425C>T , LRG_214t1:c.5425C>T | NP_000258.1:p.Arg1809Cys | |
| NM_001042492.2:c.5488C>T , LRG_214t2:c.5488C>T | NP_001035957.1:p.Arg1830Cys | |
| XM_005257983.1:c.5488C>T | XP_005258040.1:p.Arg1830Cys | |
| XM_005257984.1:c.5425C>T | XP_005258041.1:p.Arg1809Cys | |
| XM_006721922.1:c.5518C>T | XP_006721985.1:p.Arg1840Cys | |
| XM_006721923.2:c.5479C>T | XP_006721986.1:p.Arg1827Cys | |
| XM_006721924.1:c.5518C>T | XP_006721987.1:p.Arg1840Cys | |
| XM_006721925.1:c.5455C>T | XP_006721988.1:p.Arg1819Cys | |
| XM_006721926.2:c.5518C>T | XP_006721989.1:p.Arg1840Cys | |
| XM_006721927.1:c.5518C>T | XP_006721990.1:p.Arg1840Cys | |
| XM_011524852.1:c.5515C>T | XP_011523154.1:p.Arg1839Cys | |
| XM_011524853.1:c.5479C>T | XP_011523155.1:p.Arg1827Cys | |
| XM_011524854.1:c.5479C>T | XP_011523156.1:p.Arg1827Cys | |
| XM_011524855.1:c.5479C>T | XP_011523157.1:p.Arg1827Cys | |
| XM_011524856.1:c.5479C>T | XP_011523158.1:p.Arg1827Cys | |
| XM_011524857.1:c.5518C>T | XP_011523159.1:p.Arg1840Cys | |
| NM_001042492.3:c.5488C>T MANE Select | NP_001035957.1:p.Arg1830Cys |