Linked Data
ClinVar Variation Id:
2697222
ClinVar RCV Id:
RCV003507619
MyVariant Identifiers:
chr7:g.117232636G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592582G>C , CM000669.2:g.117592582G>C | GRCh38 |
| NC_000007.13:g.117232636G>C , CM000669.1:g.117232636G>C | GRCh37 |
| NC_000007.12:g.117019872G>C | NCBI36 |
| NG_016465.4:g.131799G>C , LRG_663:g.131799G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2415G>C | ENSP00000497673.2:p.Leu805= | |
| ENST00000647978.2:c.*2129G>C | ENSP00000497658.1:n.*2129G>C | |
| ENST00000649781.2:c.2232G>C | ENSP00000497203.1:p.Leu744= | |
| ENST00000685018.2:c.2415G>C | ENSP00000510194.2:p.Leu805= | |
| ENST00000687278.2:c.2415G>C | ENSP00000509593.2:p.Leu805= | |
| ENST00000699585.1:c.2415G>C | ENSP00000514456.1:p.Leu805= | |
| ENST00000699598.1:c.2415G>C | ENSP00000514467.1:p.Leu805= | |
| ENST00000699599.1:c.2415G>C | ENSP00000514468.1:p.Leu805= | |
| ENST00000699600.1:c.2415G>C | ENSP00000514469.1:p.Leu805= | |
| ENST00000699601.1:c.*715G>C | ENSP00000514470.1:n.*715G>C | |
| ENST00000699602.1:c.2415G>C | ENSP00000514471.1:p.Leu805= | |
| ENST00000699604.1:c.*2239G>C | ENSP00000514472.1:n.*2239G>C | |
| ENST00000699605.1:c.1989G>C | ENSP00000514473.1:p.Leu663= | |
| ENST00000687278.1:c.6G>C | ENSP00000509593.1:p.Leu2= | |
| ENST00000003084.11:c.2415G>C MANE Select | ENSP00000003084.6:p.Leu805= | |
| ENST00000647720.1:c.65G>C | ||
| ENST00000647978.1:c.*2129G>C | ENSP00000497658.1:n.*2129G>C | |
| ENST00000648260.1:c.1402-10244G>C | ENSP00000497957.1:n.1402-10244G>C | |
| ENST00000649406.1:c.2232G>C | ENSP00000497965.1:p.Leu744= | |
| ENST00000649781.1:c.2232G>C | ENSP00000497203.1:p.Leu744= | |
| ENST00000003084.10:c.2415G>C | ENSP00000003084.6:p.Leu805= | |
| ENST00000426809.5:c.2325G>C | ENSP00000389119.1:p.Leu775= | |
| NM_000492.3:c.2415G>C , LRG_663t1:c.2415G>C | NP_000483.3:p.Leu805= | |
| XM_011515751.1:c.2505G>C | XP_011514053.1:p.Leu835= | |
| XM_011515752.1:c.2505G>C | XP_011514054.1:p.Leu835= | |
| XM_011515753.1:c.2172G>C | XP_011514055.1:p.Leu724= | |
| XM_011515754.1:c.2172G>C | XP_011514056.1:p.Leu724= | |
| NM_000492.4:c.2415G>C MANE Select | NP_000483.3:p.Leu805= |