Linked Data
ClinVar Variation Id:
181766
dbSNP Id:
rs535800148
ExAC:
12:112915755 G / A
gnomAD v2:
12-112915755-G-A
gnomAD v3:
12-112477951-G-A
gnomAD v4:
12-112477951-G-A
COSMIC:
COSM6281937
ERepo:
CA297648/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112477951G>A , CM000674.2:g.112477951G>A | GRCh38 |
| NC_000012.11:g.112915755G>A , CM000674.1:g.112915755G>A | GRCh37 |
| NC_000012.10:g.111400138G>A | NCBI36 |
| NG_007459.1:g.64220G>A , LRG_614:g.64220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1028G>A | ENSP00000491593.2:p.Arg343Gln | |
| ENST00000685487.1:c.1028G>A | ENSP00000508503.1:p.Arg343Gln | |
| ENST00000687906.1:c.914G>A | ENSP00000509536.1:p.Arg305Gln | |
| ENST00000688597.1:c.1028G>A | ENSP00000510628.1:p.Arg343Gln | |
| ENST00000690210.1:c.1028G>A | ENSP00000509272.1:p.Arg343Gln | |
| ENST00000692624.1:c.1028G>A | ENSP00000508953.1:p.Arg343Gln | |
| ENST00000351677.7:c.1028G>A MANE Select | ENSP00000340944.3:p.Arg343Gln | |
| ENST00000351677.6:c.1028G>A | ENSP00000340944.2:p.Arg343Gln | |
| ENST00000392597.5:c.1028G>A | ENSP00000376376.1:p.Arg343Gln | |
| ENST00000635625.1:c.1028G>A | ENSP00000489597.1:p.Arg343Gln | |
| ENST00000635652.1:c.20G>A | ENSP00000489541.1:p.Arg7Gln | |
| NM_002834.3:c.1028G>A , LRG_614t1:c.1028G>A | NP_002825.3:p.Arg343Gln | |
| NM_080601.1:c.1028G>A | NP_542168.1:p.Arg343Gln | |
| XM_006719526.1:c.1028G>A | XP_006719589.1:p.Arg343Gln | |
| XM_006719527.1:c.914G>A | XP_006719590.1:p.Arg305Gln | |
| XM_011538613.1:c.1025G>A | XP_011536915.1:p.Arg342Gln | |
| NM_001330437.1:c.1028G>A | NP_001317366.1:p.Arg343Gln | |
| NM_002834.4:c.1028G>A | NP_002825.3:p.Arg343Gln | |
| NM_080601.2:c.1028G>A | NP_542168.1:p.Arg343Gln | |
| XM_011538613.2:c.1025G>A | XP_011536915.1:p.Arg342Gln | |
| XM_017019722.1:c.1025G>A | XP_016875211.1:p.Arg342Gln | |
| NM_001330437.2:c.1028G>A | NP_001317366.1:p.Arg343Gln | |
| NM_001374625.1:c.1025G>A | NP_001361554.1:p.Arg342Gln | |
| NM_002834.5:c.1028G>A MANE Select | NP_002825.3:p.Arg343Gln | |
| NM_080601.3:c.1028G>A | NP_542168.1:p.Arg343Gln |