Linked Data
ClinVar Variation Id:
13345
dbSNP Id:
rs121918470
ExAC:
12:112926909 A / G
gnomAD v2:
12-112926909-A-G
gnomAD v4:
12-112489105-A-G
PubMed:
PMID:15948193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489105A>G , CM000674.2:g.112489105A>G | GRCh38 |
| NC_000012.11:g.112926909A>G , CM000674.1:g.112926909A>G | GRCh37 |
| NC_000012.10:g.111411292A>G | NCBI36 |
| NG_007459.1:g.75374A>G , LRG_614:g.75374A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1529A>G | ENSP00000491593.2:p.Gln510Arg | |
| ENST00000685487.1:c.1529A>G | ENSP00000508503.1:p.Gln510Arg | |
| ENST00000687624.1:n.194A>G | ||
| ENST00000687906.1:c.1415A>G | ENSP00000509536.1:p.Gln472Arg | |
| ENST00000688597.1:c.1224+6900A>G | ENSP00000510628.1:n.1224+6900A>G | |
| ENST00000688701.1:n.773A>G | ||
| ENST00000690210.1:c.1529A>G | ENSP00000509272.1:p.Gln510Arg | |
| ENST00000690472.1:n.738A>G | ||
| ENST00000692624.1:c.*75A>G | ENSP00000508953.1:n.*75A>G | |
| ENST00000351677.7:c.1529A>G MANE Select | ENSP00000340944.3:p.Gln510Arg | |
| ENST00000351677.6:c.1529A>G | ENSP00000340944.2:p.Gln510Arg | |
| ENST00000635625.1:c.1541A>G | ENSP00000489597.1:p.Gln514Arg | |
| ENST00000635652.1:c.542A>G | ENSP00000489541.1:p.Gln181Arg | |
| NM_002834.3:c.1529A>G , LRG_614t1:c.1529A>G | NP_002825.3:p.Gln510Arg | |
| XM_006719526.1:c.1541A>G | XP_006719589.1:p.Gln514Arg | |
| XM_006719527.1:c.1427A>G | XP_006719590.1:p.Gln476Arg | |
| XM_011538613.1:c.1538A>G | XP_011536915.1:p.Gln513Arg | |
| NM_001330437.1:c.1541A>G | NP_001317366.1:p.Gln514Arg | |
| NM_002834.4:c.1529A>G | NP_002825.3:p.Gln510Arg | |
| XM_011538613.2:c.1538A>G | XP_011536915.1:p.Gln513Arg | |
| XM_017019722.1:c.1526A>G | XP_016875211.1:p.Gln509Arg | |
| NM_001330437.2:c.1541A>G | NP_001317366.1:p.Gln514Arg | |
| NM_001374625.1:c.1526A>G | NP_001361554.1:p.Gln509Arg | |
| NM_002834.5:c.1529A>G MANE Select | NP_002825.3:p.Gln510Arg |