Linked Data
ClinVar Variation Id:
446171
ClinVar RCV Id:
RCV000515451
dbSNP Id:
rs1554227382
PubMed:
PMID:25703627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116431082A>G , CM000668.2:g.116431082A>G | GRCh38 |
| NC_000006.11:g.116752245A>G , CM000668.1:g.116752245A>G | GRCh37 |
| NC_000006.10:g.116858938A>G | NCBI36 |
| NG_033266.1:g.155963A>G | |
| NG_033266.3:g.181931A>G | |
| NG_033266.4:g.181912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359564.3:c.799A>G | ENSP00000352567.3:p.Arg267Gly | |
| ENST00000644252.3:c.799A>G MANE Select | ENSP00000494147.2:p.Arg267Gly | |
| ENST00000644499.1:c.655A>G | ENSP00000495266.1:p.Arg219Gly | |
| ENST00000646710.1:c.670+4255A>G | ENSP00000495970.1:n.670+4255A>G | |
| ENST00000647244.1:c.670+4255A>G | ENSP00000495184.1:n.670+4255A>G | |
| ENST00000331677.7:c.799A>G | ENSP00000332151.2:p.Arg267Gly | |
| ENST00000359564.2:c.799A>G | ENSP00000352567.2:p.Arg267Gly | |
| ENST00000452085.7:c.799A>G | ENSP00000404049.2:p.Arg267Gly | |
| NM_001080976.1:c.799A>G | NP_001074445.1:p.Arg267Gly | |
| NM_013352.2:c.799A>G | NP_037484.1:p.Arg267Gly | |
| XM_011535785.1:c.83+4255A>G | XP_011534087.1:n.83+4255A>G | |
| NM_001080976.2:c.799A>G | NP_001074445.1:p.Arg267Gly | |
| NM_001322937.1:c.799A>G | NP_001309866.1:p.Arg267Gly | |
| NM_001322938.1:c.799A>G | NP_001309867.1:p.Arg267Gly | |
| NM_001322939.1:c.856A>G | NP_001309868.1:p.Arg286Gly | |
| NM_001322940.1:c.238A>G | NP_001309869.1:p.Arg80Gly | |
| NM_001322941.1:c.238A>G | NP_001309870.1:p.Arg80Gly | |
| NM_001322943.1:c.670+4255A>G | NP_001309872.1:n.670+4255A>G | |
| NM_001322944.1:c.799A>G | NP_001309873.1:p.Arg267Gly | |
| NM_013352.3:c.799A>G | NP_037484.1:p.Arg267Gly | |
| NR_136524.1:n.1046A>G | ||
| XM_017010795.1:c.856A>G | XP_016866284.1:p.Arg286Gly | |
| XM_017010796.1:c.799A>G | XP_016866285.1:p.Arg267Gly | |
| XM_017010797.1:c.856A>G | XP_016866286.1:p.Arg286Gly | |
| NM_001080976.3:c.799A>G | NP_001074445.1:p.Arg267Gly | |
| NM_001322937.2:c.799A>G | NP_001309866.1:p.Arg267Gly | |
| NM_001322938.2:c.799A>G | NP_001309867.1:p.Arg267Gly | |
| NM_001322939.2:c.856A>G | NP_001309868.1:p.Arg286Gly | |
| NM_001322940.2:c.238A>G | NP_001309869.1:p.Arg80Gly | |
| NM_001322941.2:c.238A>G | NP_001309870.1:p.Arg80Gly | |
| NM_001322943.2:c.670+4255A>G | NP_001309872.1:n.670+4255A>G | |
| NM_001322944.2:c.799A>G | NP_001309873.1:p.Arg267Gly | |
| NM_001374520.1:c.-90+25A>G | NP_001361449.1:n.-90+25A>G | |
| NM_001374521.1:c.83+4255A>G | NP_001361450.1:n.83+4255A>G | |
| NM_001374522.1:c.799A>G | NP_001361451.1:p.Arg267Gly | |
| NM_013352.4:c.799A>G MANE Select | NP_037484.1:p.Arg267Gly | |
| NR_136524.2:n.1023A>G |