Linked Data
ClinVar Variation Id:
464698
ClinVar RCV Id:
RCV000532588
dbSNP Id:
rs777894673
ExAC:
1:45796191 A / G
gnomAD v2:
1-45796191-A-G
gnomAD v3:
1-45330519-A-G
gnomAD v4:
1-45330519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45330519A>G , CM000663.2:g.45330519A>G | GRCh38 |
| NC_000001.10:g.45796191A>G , CM000663.1:g.45796191A>G | GRCh37 |
| NC_000001.9:g.45568778A>G | NCBI36 |
| NG_008189.1:g.14952T>C , LRG_220:g.14952T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.1047T>C | ENSP00000410263.2:p.Cys349= | |
| ENST00000435155.2:c.1464T>C | ENSP00000403655.2:p.Cys488= | |
| ENST00000467459.6:c.*293T>C | ENSP00000435889.2:n.*293T>C | |
| ENST00000483127.2:c.1449T>C | ENSP00000436469.2:p.Cys483= | |
| ENST00000485271.6:c.1431T>C | ENSP00000431264.2:p.Cys477= | |
| ENST00000529892.6:c.1284T>C | ENSP00000432528.2:p.Cys428= | |
| ENST00000533178.6:c.*760T>C | ENSP00000436430.2:n.*760T>C | |
| ENST00000672314.2:c.1431T>C | ENSP00000500828.2:p.Cys477= | |
| ENST00000710952.2:c.1515T>C MANE Plus Clinical | ENSP00000518552.2:p.Cys505= | |
| ENST00000672818.3:c.1506T>C | ENSP00000500891.1:p.Cys502= | |
| ENST00000456914.7:c.1431T>C MANE Select | ENSP00000407590.2:p.Cys477= | |
| ENST00000671898.1:c.2019T>C | ENSP00000499896.1:p.Cys673= | |
| ENST00000672011.1:c.*760T>C | ENSP00000500418.1:n.*760T>C | |
| ENST00000672818.2:c.1506T>C | ENSP00000500891.1:p.Cys502= | |
| ENST00000673134.1:c.*1128T>C | ENSP00000500526.1:n.*1128T>C | |
| ENST00000354383.10:c.1434T>C | ENSP00000346354.6:p.Cys478= | |
| ENST00000355498.6:c.1431T>C | ENSP00000347685.2:p.Cys477= | |
| ENST00000372098.7:c.1506T>C | ENSP00000361170.3:p.Cys502= | |
| ENST00000372104.5:c.1431T>C | ENSP00000361176.1:p.Cys477= | |
| ENST00000372110.7:c.1476T>C | ENSP00000361182.3:p.Cys492= | |
| ENST00000372115.7:c.1473T>C | ENSP00000361187.3:p.Cys491= | |
| ENST00000448481.5:c.1464T>C | ENSP00000409718.1:p.Cys488= | |
| ENST00000450313.5:c.1515T>C | ENSP00000408176.1:p.Cys505= | |
| ENST00000456914.6:c.1431T>C | ENSP00000407590.2:p.Cys477= | |
| ENST00000467459.5:c.848T>C | ENSP00000435889.1:n.848T>C | |
| ENST00000475516.5:c.*1244T>C | ENSP00000433843.1:n.*1244T>C | |
| ENST00000481571.5:c.*1244T>C | ENSP00000436597.1:n.*1244T>C | |
| ENST00000482094.5:n.752T>C | ||
| ENST00000485271.5:c.128T>C | ||
| ENST00000488731.6:c.516T>C | ENSP00000432330.1:p.Cys172= | |
| ENST00000528013.6:c.1473T>C | ENSP00000433130.2:p.Cys491= | |
| ENST00000529892.5:c.506T>C | ||
| ENST00000529984.5:c.516T>C | ENSP00000437093.1:p.Cys172= | |
| ENST00000531105.5:c.116-1082T>C | ENSP00000431292.1:n.116-1082T>C | |
| ENST00000533178.5:c.1060T>C | ENSP00000436430.1:n.1060T>C | |
| NM_001048171.1:c.1473T>C | NP_001041636.1:p.Cys491= | |
| NM_001048172.1:c.1434T>C | NP_001041637.1:p.Cys478= | |
| NM_001048173.1:c.1431T>C | NP_001041638.1:p.Cys477= | |
| NM_001048174.1:c.1431T>C | NP_001041639.1:p.Cys477= | |
| NM_001128425.1:c.1515T>C , LRG_220t1:c.1515T>C | NP_001121897.1:p.Cys505= | |
| NM_001293190.1:c.1476T>C | NP_001280119.1:p.Cys492= | |
| NM_001293191.1:c.1464T>C | NP_001280120.1:p.Cys488= | |
| NM_001293192.1:c.1155T>C | NP_001280121.1:p.Cys385= | |
| NM_001293195.1:c.1431T>C | NP_001280124.1:p.Cys477= | |
| NM_001293196.1:c.1155T>C | NP_001280125.1:p.Cys385= | |
| NM_012222.2:c.1506T>C | NP_036354.1:p.Cys502= | |
| XM_011541497.1:c.1491T>C | XP_011539799.1:p.Cys497= | |
| XM_011541498.1:c.1473T>C | XP_011539800.1:p.Cys491= | |
| XM_011541499.1:c.1473T>C | XP_011539801.1:p.Cys491= | |
| XM_011541500.1:c.1473T>C | XP_011539802.1:p.Cys491= | |
| XM_011541501.1:c.1473T>C | XP_011539803.1:p.Cys491= | |
| XM_011541502.1:c.1473T>C | XP_011539804.1:p.Cys491= | |
| XM_011541503.1:c.1473T>C | XP_011539805.1:p.Cys491= | |
| XM_011541504.1:c.1464T>C | XP_011539806.1:p.Cys488= | |
| XM_011541505.1:c.1053T>C | XP_011539807.1:p.Cys351= | |
| XM_011541506.1:c.1053T>C | XP_011539808.1:p.Cys351= | |
| XM_011541507.1:c.1044T>C | XP_011539809.1:p.Cys348= | |
| XM_011541508.1:c.1059T>C | XP_011539810.1:p.Cys353= | |
| XR_946658.1:n.1562T>C | ||
| NM_001350650.1:c.1086T>C | NP_001337579.1:p.Cys362= | |
| NM_001350651.1:c.1086T>C | NP_001337580.1:p.Cys362= | |
| NR_146882.1:n.1689T>C | ||
| NR_146883.1:n.1503T>C | ||
| XM_011541497.3:c.1491T>C | XP_011539799.1:p.Cys497= | |
| XM_011541500.3:c.1473T>C | XP_011539802.1:p.Cys491= | |
| XM_011541501.2:c.1473T>C | XP_011539803.1:p.Cys491= | |
| XM_011541502.2:c.1473T>C | XP_011539804.1:p.Cys491= | |
| XM_011541503.2:c.1473T>C | XP_011539805.1:p.Cys491= | |
| XM_011541504.2:c.1464T>C | XP_011539806.1:p.Cys488= | |
| XM_011541505.2:c.1053T>C | XP_011539807.1:p.Cys351= | |
| XM_011541506.2:c.1053T>C | XP_011539808.1:p.Cys351= | |
| XM_017001331.1:c.1473T>C | XP_016856820.1:p.Cys491= | |
| XM_017001332.1:c.1473T>C | XP_016856821.1:p.Cys491= | |
| XM_017001333.1:c.1473T>C | XP_016856822.1:p.Cys491= | |
| XM_017001334.1:c.1434T>C | XP_016856823.1:p.Cys478= | |
| XM_017001335.1:c.1155T>C | XP_016856824.1:p.Cys385= | |
| XM_017001336.1:c.1086T>C | XP_016856825.1:p.Cys362= | |
| XM_017001337.1:c.1086T>C | XP_016856826.1:p.Cys362= | |
| XM_024447244.1:c.1086T>C | XP_024303012.1:p.Cys362= | |
| XM_024447245.1:c.1086T>C | XP_024303013.1:p.Cys362= | |
| XM_024447248.1:c.1044T>C | XP_024303016.1:p.Cys348= | |
| XM_024447249.1:c.915T>C | XP_024303017.1:p.Cys305= | |
| XM_024447250.1:c.915T>C | XP_024303018.1:p.Cys305= | |
| XM_024447251.1:c.915T>C | XP_024303019.1:p.Cys305= | |
| XR_001737190.1:n.1476T>C | ||
| XR_001737192.1:n.1288T>C | ||
| XR_002956643.1:n.1468T>C | ||
| XR_002956644.1:n.2003T>C | ||
| XR_946658.2:n.1576T>C | ||
| NM_001048171.2:c.1431T>C | NP_001041636.2:p.Cys477= | |
| NM_001128425.2:c.1515T>C MANE Plus Clinical | NP_001121897.1:p.Cys505= | |
| NM_001048172.2:c.1434T>C | NP_001041637.1:p.Cys478= | |
| NM_001048173.2:c.1431T>C | NP_001041638.1:p.Cys477= | |
| NM_001048174.2:c.1431T>C MANE Select | NP_001041639.1:p.Cys477= | |
| NM_001293190.2:c.1476T>C | NP_001280119.1:p.Cys492= | |
| NM_001293191.2:c.1464T>C | NP_001280120.1:p.Cys488= | |
| NM_001293192.2:c.1155T>C | NP_001280121.1:p.Cys385= | |
| NM_001293195.2:c.1431T>C | NP_001280124.1:p.Cys477= | |
| NM_001293196.2:c.1155T>C | NP_001280125.1:p.Cys385= | |
| NM_001350650.2:c.1086T>C | NP_001337579.1:p.Cys362= | |
| NM_001350651.2:c.1086T>C | NP_001337580.1:p.Cys362= | |
| NM_012222.3:c.1506T>C | NP_036354.1:p.Cys502= | |
| NR_146882.2:n.1659T>C | ||
| NR_146883.2:n.1508T>C |