Linked Data
ClinVar Variation Id:
315095
ClinVar RCV Id:
RCV000289799
dbSNP Id:
rs10144436
gnomAD v2:
14-95556402-C-A
gnomAD v3:
14-95090065-C-A
gnomAD v4:
14-95090065-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95090065C>A , CM000676.2:g.95090065C>A | GRCh38 |
| NC_000014.8:g.95556402C>A , CM000676.1:g.95556402C>A | GRCh37 |
| NC_000014.7:g.94626155C>A | NCBI36 |
| NG_016311.1:g.72358G>T , LRG_492:g.72358G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.*433G>T | ENSP00000433926.2:n.*433G>T | |
| ENST00000531162.7:c.*433G>T | ENSP00000433060.3:n.*433G>T | |
| ENST00000674628.2:c.*433G>T | ENSP00000502730.2:n.*433G>T | |
| ENST00000675540.2:c.*2852G>T | ENSP00000501988.2:n.*2852G>T | |
| ENST00000696733.1:c.*824G>T | ENSP00000512838.1:n.*824G>T | |
| ENST00000696734.1:c.*857G>T | ENSP00000512839.1:n.*857G>T | |
| ENST00000696920.1:n.6465G>T | ||
| ENST00000696921.1:n.7308G>T | ||
| ENST00000696922.1:n.9133G>T | ||
| ENST00000696923.1:c.*857G>T | ENSP00000512976.1:n.*857G>T | |
| ENST00000696924.1:c.*824G>T | ENSP00000512977.1:n.*824G>T | |
| ENST00000696925.1:n.9503G>T | ||
| ENST00000343455.8:c.*433G>T MANE Select | ENSP00000343745.3:n.*433G>T | |
| ENST00000393063.6:c.*433G>T | ENSP00000376783.1:n.*433G>T | |
| ENST00000526495.6:c.*433G>T | ENSP00000437256.1:n.*433G>T | |
| ENST00000675540.1:c.3947G>T | ENSP00000501988.1:n.3947G>T | |
| ENST00000675995.1:c.*4518G>T | ENSP00000502591.1:n.*4518G>T | |
| ENST00000343455.7:c.*433G>T | ENSP00000343745.3:n.*433G>T | |
| ENST00000393063.5:c.*433G>T | ENSP00000376783.1:n.*433G>T | |
| ENST00000526495.5:c.*433G>T | ENSP00000437256.1:n.*433G>T | |
| ENST00000527416.2:n.347+448G>T | ||
| NM_001195573.1:c.*549G>T | NP_001182502.1:n.*549G>T | |
| NM_001271282.2:c.*433G>T | NP_001258211.1:n.*433G>T | |
| NM_001291628.1:c.*433G>T | NP_001278557.1:n.*433G>T | |
| NM_030621.4:c.*433G>T | NP_085124.2:n.*433G>T | |
| NM_177438.2:c.*433G>T , LRG_492t1:c.*433G>T | NP_803187.1:n.*433G>T | |
| XM_011536599.1:c.*433G>T | XP_011534901.1:n.*433G>T | |
| XM_011536600.1:c.*433G>T | XP_011534902.1:n.*433G>T | |
| XM_011536601.1:c.*433G>T | XP_011534903.1:n.*433G>T | |
| XM_011536602.1:c.*433G>T | XP_011534904.1:n.*433G>T | |
| XM_011536603.1:c.*433G>T | XP_011534905.1:n.*433G>T | |
| XM_011536604.1:c.*433G>T | XP_011534906.1:n.*433G>T | |
| XM_011536605.1:c.*433G>T | XP_011534907.1:n.*433G>T | |
| XM_011536599.2:c.*433G>T | XP_011534901.1:n.*433G>T | |
| XM_011536600.3:c.*433G>T | XP_011534902.1:n.*433G>T | |
| XM_011536601.3:c.*433G>T | XP_011534903.1:n.*433G>T | |
| XM_011536602.3:c.*433G>T | XP_011534904.1:n.*433G>T | |
| XM_011536604.2:c.*433G>T | XP_011534906.1:n.*433G>T | |
| XM_011536605.2:c.*433G>T | XP_011534907.1:n.*433G>T | |
| XM_017021120.2:c.*433G>T | XP_016876609.1:n.*433G>T | |
| XM_017021121.2:c.*433G>T | XP_016876610.1:n.*433G>T | |
| XM_017021122.2:c.*433G>T | XP_016876611.1:n.*433G>T | |
| XM_017021123.2:c.*433G>T | XP_016876612.1:n.*433G>T | |
| NM_001271282.3:c.*433G>T | NP_001258211.1:n.*433G>T | |
| NM_001291628.2:c.*433G>T | NP_001278557.1:n.*433G>T | |
| NM_177438.3:c.*433G>T MANE Select | NP_803187.1:n.*433G>T | |
| NM_001395677.1:c.*433G>T | NP_001382606.1:n.*433G>T | |
| NM_001395678.1:c.*433G>T | NP_001382607.1:n.*433G>T | |
| NM_001395679.1:c.*433G>T | NP_001382608.1:n.*433G>T | |
| NM_001395680.1:c.*433G>T | NP_001382609.1:n.*433G>T | |
| NM_001395682.1:c.*433G>T | NP_001382611.1:n.*433G>T | |
| NM_001395683.1:c.*433G>T | NP_001382612.1:n.*433G>T | |
| NM_001395684.1:c.*433G>T | NP_001382613.1:n.*433G>T | |
| NM_001395685.1:c.*748G>T | NP_001382614.1:n.*748G>T | |
| NM_001395686.1:c.*433G>T | NP_001382615.1:n.*433G>T | |
| NM_001395687.1:c.*433G>T | NP_001382616.1:n.*433G>T | |
| NM_001395688.1:c.*433G>T | NP_001382617.1:n.*433G>T | |
| NM_001395689.1:c.*433G>T | NP_001382618.1:n.*433G>T | |
| NM_001395690.1:c.*433G>T | NP_001382619.1:n.*433G>T | |
| NM_001395691.1:c.*433G>T | NP_001382620.1:n.*433G>T | |
| NM_001395697.1:c.*433G>T | NP_001382626.1:n.*433G>T | |
| NR_172715.1:n.6172+448G>T | ||
| NR_172716.1:n.6804G>T | ||
| NR_172717.1:n.6266+448G>T | ||
| NR_172718.1:n.6637G>T | ||
| NR_172719.1:n.6470G>T | ||
| NR_172720.1:n.6673G>T |