Linked Data
ClinVar Variation Id:
5331
dbSNP Id:
rs121908429
ExAC:
15:34549914 G / A
gnomAD v2:
15-34549914-G-A
gnomAD v3:
15-34257713-G-A
gnomAD v4:
15-34257713-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34257713G>A , CM000677.2:g.34257713G>A | GRCh38 |
| NC_000015.9:g.34549914G>A , CM000677.1:g.34549914G>A | GRCh37 |
| NC_000015.8:g.32337206G>A | NCBI36 |
| NG_007951.1:g.85352C>T , LRG_270:g.85352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.619C>T MANE Select | ENSP00000346112.3:p.Arg207Cys | |
| ENST00000675289.1:n.1401C>T | ||
| ENST00000676379.1:c.619C>T | ENSP00000502539.1:p.Arg207Cys | |
| ENST00000290209.9:c.466C>T | ENSP00000290209.5:p.Arg156Cys | |
| ENST00000354181.7:c.619C>T | ENSP00000346112.3:p.Arg207Cys | |
| ENST00000397702.6:c.442C>T | ENSP00000380814.2:p.Arg148Cys | |
| ENST00000397707.6:c.574C>T | ENSP00000380819.2:p.Arg192Cys | |
| ENST00000458406.6:c.442C>T | ENSP00000387725.2:p.Arg148Cys | |
| ENST00000558589.5:c.592C>T | ENSP00000452776.1:p.Arg198Cys | |
| ENST00000558667.5:c.619C>T | ENSP00000453473.1:p.Arg207Cys | |
| ENST00000559523.5:c.442C>T | ENSP00000452904.1:p.Arg148Cys | |
| ENST00000559664.5:c.619C>T | ENSP00000453702.1:p.Arg207Cys | |
| ENST00000560164.5:c.126+1100C>T | ENSP00000452705.1:n.126+1100C>T | |
| ENST00000560332.1:c.202C>T | ENSP00000454037.1:p.Arg68Cys | |
| ENST00000560611.5:c.619C>T | ENSP00000454168.1:p.Arg207Cys | |
| ENST00000561080.5:c.619C>T | ENSP00000454069.1:p.Arg207Cys | |
| NM_001042494.1:c.442C>T | NP_001035959.1:p.Arg148Cys | |
| NM_001042495.1:c.442C>T | NP_001035960.1:p.Arg148Cys | |
| NM_001042496.1:c.592C>T | NP_001035961.1:p.Arg198Cys | |
| NM_001042497.1:c.574C>T | NP_001035962.1:p.Arg192Cys | |
| NM_005135.2:c.466C>T , LRG_270t1:c.466C>T | NP_005126.1:p.Arg156Cys | |
| NM_133647.1:c.619C>T , LRG_270t2:c.619C>T | NP_598408.1:p.Arg207Cys | |
| XM_006720793.2:c.543+1100C>T | XP_006720856.1:n.543+1100C>T | |
| XM_011522267.1:c.619C>T | XP_011520569.1:p.Arg207Cys | |
| XM_011522268.1:c.619C>T | XP_011520570.1:p.Arg207Cys | |
| XM_011522269.1:c.619C>T | XP_011520571.1:p.Arg207Cys | |
| XR_429476.2:n.625C>T | ||
| XR_931960.1:n.625C>T | ||
| XR_931961.1:n.625C>T | ||
| NM_001365088.1:c.619C>T MANE Select | NP_001352017.1:p.Arg207Cys | |
| XM_006720793.4:c.543+1100C>T | XP_006720856.1:n.543+1100C>T | |
| XM_011522269.3:c.619C>T | XP_011520571.1:p.Arg207Cys | |
| XR_931960.3:n.1869C>T | ||
| NM_001042494.2:c.442C>T | NP_001035959.1:p.Arg148Cys | |
| NM_001042495.2:c.442C>T | NP_001035960.1:p.Arg148Cys | |
| NM_001042496.2:c.592C>T | NP_001035961.1:p.Arg198Cys | |
| NM_001042497.2:c.574C>T | NP_001035962.1:p.Arg192Cys | |
| NM_133647.2:c.619C>T | NP_598408.1:p.Arg207Cys |