Linked Data
ClinVar Variation Id:
216930
ClinVar RCV Id:
RCV000195583
dbSNP Id:
rs863224873
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612212A>T , CM000669.2:g.30612212A>T | GRCh38 |
| NC_000007.13:g.30651828A>T , CM000669.1:g.30651828A>T | GRCh37 |
| NC_000007.12:g.30618353A>T | NCBI36 |
| NG_007942.1:g.22648A>T , LRG_243:g.22648A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.998A>T MANE Select | ENSP00000373918.3:p.Glu333Val | |
| ENST00000444666.6:c.998A>T | ENSP00000415447.2:p.Glu333Val | |
| ENST00000470392.2:n.1088A>T | ||
| ENST00000478124.6:n.1061A>T | ||
| ENST00000485784.2:n.1077A>T | ||
| ENST00000674616.1:c.*712A>T | ENSP00000502408.1:n.*712A>T | |
| ENST00000674643.1:c.998A>T | ENSP00000501636.1:p.Glu333Val | |
| ENST00000674734.1:n.1494A>T | ||
| ENST00000674737.1:c.*336A>T | ENSP00000502464.1:n.*336A>T | |
| ENST00000674807.1:c.998A>T | ENSP00000502814.1:p.Glu333Val | |
| ENST00000674815.1:c.629A>T | ENSP00000502799.1:p.Glu210Val | |
| ENST00000674851.1:c.629A>T | ENSP00000502451.1:p.Glu210Val | |
| ENST00000674969.1:n.2871A>T | ||
| ENST00000675051.1:c.797A>T | ENSP00000502296.1:p.Glu266Val | |
| ENST00000675529.1:c.*868A>T | ENSP00000501655.1:n.*868A>T | |
| ENST00000675587.1:n.1014A>T | ||
| ENST00000675651.1:c.998A>T | ENSP00000502513.1:p.Glu333Val | |
| ENST00000675693.1:c.830A>T | ENSP00000502174.1:p.Glu277Val | |
| ENST00000675810.1:c.896A>T | ENSP00000502743.1:p.Glu299Val | |
| ENST00000675859.1:c.998A>T | ENSP00000502033.1:p.Glu333Val | |
| ENST00000675863.1:n.1006A>T | ||
| ENST00000675886.1:n.7038A>T | ||
| ENST00000676088.1:c.*940A>T | ENSP00000501884.1:n.*940A>T | |
| ENST00000676140.1:c.998A>T | ENSP00000502571.1:p.Glu333Val | |
| ENST00000676164.1:c.*449A>T | ENSP00000501986.1:n.*449A>T | |
| ENST00000676210.1:c.*287A>T | ENSP00000502373.1:n.*287A>T | |
| ENST00000676259.1:c.*430A>T | ENSP00000501980.1:n.*430A>T | |
| ENST00000676403.1:c.998A>T | ENSP00000502681.1:p.Glu333Val | |
| ENST00000389266.7:c.998A>T | ENSP00000373918.3:p.Glu333Val | |
| ENST00000478124.5:n.1036A>T | ||
| NM_001316772.1:c.836A>T | NP_001303701.1:p.Glu279Val | |
| NM_002047.2:c.998A>T , LRG_243t1:c.998A>T | NP_002038.2:p.Glu333Val | |
| NM_002047.3:c.998A>T | NP_002038.2:p.Glu333Val | |
| XM_006715686.1:c.629A>T | XP_006715749.1:p.Glu210Val | |
| XM_006715686.2:c.629A>T | XP_006715749.1:p.Glu210Val | |
| NM_002047.4:c.998A>T MANE Select | NP_002038.2:p.Glu333Val |