Linked Data
ClinVar Variation Id:
373977
ClinVar RCV Id:
RCV000414803
RCV000416049
RCV000576327
RCV003155176
RCV003476003
RCV004551415
RCV002480270
dbSNP Id:
rs549794342
ExAC:
2:152357937 G / A
gnomAD v2:
2-152357937-G-A
gnomAD v3:
2-151501423-G-A
gnomAD v4:
2-151501423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151501423G>A , CM000664.2:g.151501423G>A | GRCh38 |
| NC_000002.11:g.152357937G>A , CM000664.1:g.152357937G>A | GRCh37 |
| NC_000002.10:g.152066183G>A | NCBI36 |
| NG_009382.2:g.238065C>T , LRG_202:g.238065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434685.6:c.3074+4055C>T (NEB) | ||
| ENST00000688578.1:c.774C>T (NEB) | ||
| ENST00000690043.1:c.6377+4055C>T (NEB) | ||
| ENST00000693000.1:n.2656+4055C>T (NEB) | ||
| ENST00000397345.8:c.23989C>T (NEB) MANE Select | ENSP00000380505.3:p.Arg7997Ter | |
| ENST00000427231.7:c.23989C>T (NEB) MANE Plus Clinical | ENSP00000416578.2:p.Arg7997Ter | |
| ENST00000172853.14:c.18825+1370C>T (NEB) | ENSP00000172853.10:n.18825+1370C>T | |
| ENST00000397337.6:c.515+1370C>T (NEB) | ||
| ENST00000397345.7:c.23989C>T (NEB) | ENSP00000380505.3:p.Arg7997Ter | |
| ENST00000409198.5:c.18825+1370C>T (NEB) | ENSP00000386259.1:n.18825+1370C>T | |
| ENST00000413693.5:c.8025+1926C>T (NEB) | ENSP00000410961.1:n.8025+1926C>T | |
| ENST00000421461.6:c.518C>T (NEB) | ||
| ENST00000424585.1:c.609+1370C>T (NEB) | ENSP00000404876.1:n.609+1370C>T | |
| ENST00000427231.6:c.23989C>T (NEB) | ENSP00000416578.2:p.Arg7997Ter | |
| ENST00000434685.5:c.1394+4055C>T (NEB) | ||
| ENST00000454583.6:c.2950-1611G>A (RIF1) | ||
| ENST00000498015.2:n.225+4055C>T (NEB) | ||
| ENST00000603639.5:c.23989C>T (NEB) | ENSP00000473894.1:p.Arg7997Ter | |
| ENST00000604864.5:c.23989C>T (NEB) | ENSP00000474498.1:p.Arg7997Ter | |
| ENST00000618972.4:c.24094C>T (NEB) | ENSP00000484342.1:p.Arg8032Ter | |
| NM_001164507.1:c.23989C>T (NEB) | NP_001157979.1:p.Arg7997Ter | |
| NM_001164508.1:c.23989C>T (NEB) | NP_001157980.1:p.Arg7997Ter | |
| NM_001271208.1:c.24094C>T , LRG_202t1:c.24094C>T (NEB) | NP_001258137.1:p.Arg8032Ter | |
| NM_004543.4:c.18825+1370C>T (NEB) | NP_004534.2:n.18825+1370C>T | |
| XM_005246590.1:c.23928+1370C>T (NEB) | XP_005246647.1:n.23928+1370C>T | |
| XM_005246591.1:c.23989C>T (NEB) | XP_005246648.1:p.Arg7997Ter | |
| XM_005246592.1:c.23989C>T (NEB) | XP_005246649.1:p.Arg7997Ter | |
| XM_005246593.1:c.23989C>T (NEB) | XP_005246650.1:p.Arg7997Ter | |
| XM_005246594.1:c.23896C>T (NEB) | XP_005246651.1:p.Arg7966Ter | |
| XM_005246595.1:c.23896C>T (NEB) | XP_005246652.1:p.Arg7966Ter | |
| XM_005246596.1:c.23928+1370C>T (NEB) | XP_005246653.1:n.23928+1370C>T | |
| XM_005246597.1:c.23989C>T (NEB) | XP_005246654.1:p.Arg7997Ter | |
| XM_005246598.1:c.23989C>T (NEB) | XP_005246655.1:p.Arg7997Ter | |
| XM_005246599.1:c.23928+1370C>T (NEB) | XP_005246656.1:n.23928+1370C>T | |
| XM_005246600.1:c.23835+1926C>T (NEB) | XP_005246657.1:n.23835+1926C>T | |
| XM_005246601.1:c.23928+1370C>T (NEB) | XP_005246658.1:n.23928+1370C>T | |
| XM_005246602.1:c.23835+1926C>T (NEB) | XP_005246659.1:n.23835+1926C>T | |
| XM_005246603.1:c.23928+1370C>T (NEB) | XP_005246660.1:n.23928+1370C>T | |
| XM_005246604.1:c.23928+1370C>T (NEB) | XP_005246661.1:n.23928+1370C>T | |
| XM_005246606.1:c.23835+1926C>T (NEB) | XP_005246663.1:n.23835+1926C>T | |
| XM_005246608.1:c.23928+1370C>T (NEB) | XP_005246665.1:n.23928+1370C>T | |
| XM_005246610.1:c.23835+1926C>T (NEB) | XP_005246667.1:n.23835+1926C>T | |
| XM_005246611.1:c.23989C>T (NEB) | XP_005246668.1:p.Arg7997Ter | |
| XM_005246612.1:c.23260C>T (NEB) | XP_005246669.1:p.Arg7754Ter | |
| XM_005246613.1:c.23260C>T (NEB) | XP_005246670.1:p.Arg7754Ter | |
| XM_005246615.1:c.23835+1926C>T (NEB) | XP_005246672.1:n.23835+1926C>T | |
| XM_005246616.1:c.23896C>T (NEB) | XP_005246673.1:p.Arg7966Ter | |
| XM_005246617.1:c.21073C>T (NEB) | XP_005246674.1:p.Arg7025Ter | |
| XM_006712541.1:c.23928+1370C>T (NEB) | XP_006712604.1:n.23928+1370C>T | |
| XM_006712542.1:c.23928+1370C>T (NEB) | XP_006712605.1:n.23928+1370C>T | |
| XM_011511224.1:c.23896C>T (NEB) | XP_011509526.1:p.Arg7966Ter | |
| XM_011511225.1:c.23742+4055C>T (NEB) | XP_011509527.1:n.23742+4055C>T | |
| XM_011511226.1:c.21802C>T (NEB) | XP_011509528.1:p.Arg7268Ter | |
| XM_011511227.1:c.19615C>T (NEB) | XP_011509529.1:p.Arg6539Ter | |
| XR_922955.1:n.7838+18088G>A (RIF1) | ||
| XM_005246590.2:c.23928+1370C>T (NEB) | XP_005246647.1:n.23928+1370C>T | |
| XM_005246591.2:c.23989C>T (NEB) | XP_005246648.1:p.Arg7997Ter | |
| XM_005246592.2:c.23989C>T (NEB) | XP_005246649.1:p.Arg7997Ter | |
| XM_005246593.2:c.23989C>T (NEB) | XP_005246650.1:p.Arg7997Ter | |
| XM_005246594.2:c.23896C>T (NEB) | XP_005246651.1:p.Arg7966Ter | |
| XM_005246596.2:c.23928+1370C>T (NEB) | XP_005246653.1:n.23928+1370C>T | |
| XM_005246597.2:c.23989C>T (NEB) | XP_005246654.1:p.Arg7997Ter | |
| XM_005246598.2:c.23989C>T (NEB) | XP_005246655.1:p.Arg7997Ter | |
| XM_005246599.2:c.23928+1370C>T (NEB) | XP_005246656.1:n.23928+1370C>T | |
| XM_005246601.2:c.23928+1370C>T (NEB) | XP_005246658.1:n.23928+1370C>T | |
| XM_005246602.2:c.23835+1926C>T (NEB) | XP_005246659.1:n.23835+1926C>T | |
| XM_005246603.2:c.23928+1370C>T (NEB) | XP_005246660.1:n.23928+1370C>T | |
| XM_005246604.2:c.23928+1370C>T (NEB) | XP_005246661.1:n.23928+1370C>T | |
| XM_005246606.2:c.23835+1926C>T (NEB) | XP_005246663.1:n.23835+1926C>T | |
| XM_005246608.2:c.23928+1370C>T (NEB) | XP_005246665.1:n.23928+1370C>T | |
| XM_005246610.2:c.23835+1926C>T (NEB) | XP_005246667.1:n.23835+1926C>T | |
| XM_005246611.2:c.23989C>T (NEB) | XP_005246668.1:p.Arg7997Ter | |
| XM_005246612.2:c.23260C>T (NEB) | XP_005246669.1:p.Arg7754Ter | |
| XM_005246613.2:c.23260C>T (NEB) | XP_005246670.1:p.Arg7754Ter | |
| XM_005246615.2:c.23835+1926C>T (NEB) | XP_005246672.1:n.23835+1926C>T | |
| XM_005246617.2:c.21073C>T (NEB) | XP_005246674.1:p.Arg7025Ter | |
| XM_006712541.2:c.23928+1370C>T (NEB) | XP_006712604.1:n.23928+1370C>T | |
| XM_006712542.2:c.23928+1370C>T (NEB) | XP_006712605.1:n.23928+1370C>T | |
| XM_011511225.2:c.23742+4055C>T (NEB) | XP_011509527.1:n.23742+4055C>T | |
| XM_011511226.2:c.21802C>T (NEB) | XP_011509528.1:p.Arg7268Ter | |
| XM_011511227.2:c.19615C>T (NEB) | XP_011509529.1:p.Arg6539Ter | |
| XM_017004177.1:c.23878C>T (NEB) | XP_016859666.1:p.Arg7960Ter | |
| XM_017004178.1:c.23835+1926C>T (NEB) | XP_016859667.1:n.23835+1926C>T | |
| XM_017004179.1:c.23835+1926C>T (NEB) | XP_016859668.1:n.23835+1926C>T | |
| XM_017004180.1:c.23743-3705C>T (NEB) | XP_016859669.1:n.23743-3705C>T | |
| XM_017004181.1:c.23835+1926C>T (NEB) | XP_016859670.1:n.23835+1926C>T | |
| XM_017004182.1:c.23835+1926C>T (NEB) | XP_016859671.1:n.23835+1926C>T | |
| XM_017004183.1:c.23835+1926C>T (NEB) | XP_016859672.1:n.23835+1926C>T | |
| XM_017004184.1:c.23835+1926C>T (NEB) | XP_016859673.1:n.23835+1926C>T | |
| XM_017004185.1:c.23742+4055C>T (NEB) | XP_016859674.1:n.23742+4055C>T | |
| XR_001738811.2:n.10067-1611G>A (RIF1) | ||
| XR_001738812.2:n.8448-1611G>A (RIF1) | ||
| XR_001738813.2:n.9969-1611G>A (RIF1) | ||
| XR_001738814.2:n.8350-1611G>A (RIF1) | ||
| XR_001738815.2:n.8214-1611G>A (RIF1) | ||
| XR_001738816.2:n.8214-4787G>A (RIF1) | ||
| XR_001738817.2:n.8213+18088G>A (RIF1) | ||
| NM_001271208.2:c.24094C>T (NEB) | NP_001258137.2:p.Arg8032Ter | |
| NM_004543.5:c.18825+1370C>T (NEB) | NP_004534.3:n.18825+1370C>T | |
| NM_001164507.2:c.23989C>T (NEB) MANE Plus Clinical | NP_001157979.2:p.Arg7997Ter | |
| NM_001164508.2:c.23989C>T (NEB) MANE Select | NP_001157980.2:p.Arg7997Ter |