Linked Data
ClinVar Variation Id:
40558
ClinVar RCV Id:
RCV000033545
RCV000210040
RCV000515165
RCV000824750
RCV001028095
RCV001374913
RCV002390131
RCV004532494
dbSNP Id:
rs397507545
gnomAD v2:
12-112926887-G-C
gnomAD v4:
12-112489083-G-C
COSMIC:
COSM4384772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489083G>C , CM000674.2:g.112489083G>C | GRCh38 |
| NC_000012.11:g.112926887G>C , CM000674.1:g.112926887G>C | GRCh37 |
| NC_000012.10:g.111411270G>C | NCBI36 |
| NG_007459.1:g.75352G>C , LRG_614:g.75352G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1507G>C | ENSP00000491593.2:p.Gly503Arg | |
| ENST00000685487.1:c.1507G>C | ENSP00000508503.1:p.Gly503Arg | |
| ENST00000687624.1:n.172G>C | ||
| ENST00000687906.1:c.1393G>C | ENSP00000509536.1:p.Gly465Arg | |
| ENST00000688597.1:c.1224+6878G>C | ENSP00000510628.1:n.1224+6878G>C | |
| ENST00000688701.1:n.751G>C | ||
| ENST00000690210.1:c.1507G>C | ENSP00000509272.1:p.Gly503Arg | |
| ENST00000690472.1:n.716G>C | ||
| ENST00000692624.1:c.*53G>C | ENSP00000508953.1:n.*53G>C | |
| ENST00000351677.7:c.1507G>C MANE Select | ENSP00000340944.3:p.Gly503Arg | |
| ENST00000351677.6:c.1507G>C | ENSP00000340944.2:p.Gly503Arg | |
| ENST00000635625.1:c.1519G>C | ENSP00000489597.1:p.Gly507Arg | |
| ENST00000635652.1:c.520G>C | ENSP00000489541.1:p.Gly174Arg | |
| NM_002834.3:c.1507G>C , LRG_614t1:c.1507G>C | NP_002825.3:p.Gly503Arg | |
| XM_006719526.1:c.1519G>C | XP_006719589.1:p.Gly507Arg | |
| XM_006719527.1:c.1405G>C | XP_006719590.1:p.Gly469Arg | |
| XM_011538613.1:c.1516G>C | XP_011536915.1:p.Gly506Arg | |
| NM_001330437.1:c.1519G>C | NP_001317366.1:p.Gly507Arg | |
| NM_002834.4:c.1507G>C | NP_002825.3:p.Gly503Arg | |
| XM_011538613.2:c.1516G>C | XP_011536915.1:p.Gly506Arg | |
| XM_017019722.1:c.1504G>C | XP_016875211.1:p.Gly502Arg | |
| NM_001330437.2:c.1519G>C | NP_001317366.1:p.Gly507Arg | |
| NM_001374625.1:c.1504G>C | NP_001361554.1:p.Gly502Arg | |
| NM_002834.5:c.1507G>C MANE Select | NP_002825.3:p.Gly503Arg |