Linked Data
ClinVar Variation Id:
2453624
ClinVar RCV Id:
RCV003187759
COSMIC:
COSM4406356
MyVariant Identifiers:
chr7:g.117304798G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664744G>A , CM000669.2:g.117664744G>A | GRCh38 |
| NC_000007.13:g.117304798G>A , CM000669.1:g.117304798G>A | GRCh37 |
| NC_000007.12:g.117092034G>A | NCBI36 |
| NG_016465.4:g.203961G>A , LRG_663:g.203961G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*229G>A | ENSP00000497673.2:n.*229G>A | |
| ENST00000647978.2:c.*3734G>A | ENSP00000497658.1:n.*3734G>A | |
| ENST00000649781.2:c.3837G>A | ENSP00000497203.1:p.Val1279= | |
| ENST00000685018.2:c.*233G>A | ENSP00000510194.2:n.*233G>A | |
| ENST00000687278.2:c.*673G>A | ENSP00000509593.2:n.*673G>A | |
| ENST00000699585.1:c.*229G>A | ENSP00000514456.1:n.*229G>A | |
| ENST00000699598.1:c.4020G>A | ENSP00000514467.1:p.Val1340= | |
| ENST00000699599.1:c.*233G>A | ENSP00000514468.1:n.*233G>A | |
| ENST00000699600.1:c.*681G>A | ENSP00000514469.1:n.*681G>A | |
| ENST00000699601.1:c.*2395G>A | ENSP00000514470.1:n.*2395G>A | |
| ENST00000699602.1:c.4014G>A | ENSP00000514471.1:p.Val1338= | |
| ENST00000699604.1:c.*3844G>A | ENSP00000514472.1:n.*3844G>A | |
| ENST00000699605.1:c.3594G>A | ENSP00000514473.1:p.Val1198= | |
| ENST00000699606.1:n.2188G>A | ||
| ENST00000685018.1:c.884G>A | ENSP00000510194.1:n.884G>A | |
| ENST00000687278.1:c.1807G>A | ENSP00000509593.1:n.1807G>A | |
| ENST00000689011.1:c.602G>A | ||
| ENST00000003084.11:c.4020G>A MANE Select | ENSP00000003084.6:p.Val1340= | |
| ENST00000647720.1:c.1470G>A | ||
| ENST00000649781.1:c.3837G>A | ENSP00000497203.1:p.Val1279= | |
| ENST00000003084.10:c.4020G>A | ENSP00000003084.6:p.Val1340= | |
| ENST00000426809.5:c.3930G>A | ENSP00000389119.1:p.Val1310= | |
| ENST00000600166.1:c.146G>A | ||
| NM_000492.3:c.4020G>A , LRG_663t1:c.4020G>A | NP_000483.3:p.Val1340= | |
| XM_011515751.1:c.4110G>A | XP_011514053.1:p.Val1370= | |
| XM_011515752.1:c.4110G>A | XP_011514054.1:p.Val1370= | |
| XM_011515753.1:c.3777G>A | XP_011514055.1:p.Val1259= | |
| XM_011515754.1:c.3777G>A | XP_011514056.1:p.Val1259= | |
| NM_000492.4:c.4020G>A MANE Select | NP_000483.3:p.Val1340= |