Linked Data
ClinVar Variation Id:
1674453
ClinVar RCV Id:
RCV002208269
dbSNP Id:
rs1453045670
gnomAD v4:
7-117606684-T-A
MyVariant Identifiers:
chr7:g.117246738T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117606684T>A , CM000669.2:g.117606684T>A | GRCh38 |
| NC_000007.13:g.117246738T>A , CM000669.1:g.117246738T>A | GRCh37 |
| NC_000007.12:g.117033974T>A | NCBI36 |
| NG_016465.4:g.145901T>A , LRG_663:g.145901T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2919T>A | ENSP00000497673.2:p.Leu973= | |
| ENST00000647978.2:c.*2633T>A | ENSP00000497658.1:n.*2633T>A | |
| ENST00000649781.2:c.2736T>A | ENSP00000497203.1:p.Leu912= | |
| ENST00000685018.2:c.2919T>A | ENSP00000510194.2:p.Leu973= | |
| ENST00000687278.2:c.2919T>A | ENSP00000509593.2:p.Leu973= | |
| ENST00000699585.1:c.2919T>A | ENSP00000514456.1:p.Leu973= | |
| ENST00000699598.1:c.2919T>A | ENSP00000514467.1:p.Leu973= | |
| ENST00000699599.1:c.2919T>A | ENSP00000514468.1:p.Leu973= | |
| ENST00000699600.1:c.2919T>A | ENSP00000514469.1:p.Leu973= | |
| ENST00000699601.1:c.*1219T>A | ENSP00000514470.1:n.*1219T>A | |
| ENST00000699602.1:c.2919T>A | ENSP00000514471.1:p.Leu973= | |
| ENST00000699604.1:c.*2743T>A | ENSP00000514472.1:n.*2743T>A | |
| ENST00000699605.1:c.2493T>A | ENSP00000514473.1:p.Leu831= | |
| ENST00000687278.1:c.510T>A | ENSP00000509593.1:p.Leu170= | |
| ENST00000003084.11:c.2919T>A MANE Select | ENSP00000003084.6:p.Leu973= | |
| ENST00000647720.1:c.569T>A | ||
| ENST00000648260.1:c.1701T>A | ENSP00000497957.1:p.Leu567= | |
| ENST00000649406.1:c.2736T>A | ENSP00000497965.1:p.Leu912= | |
| ENST00000649781.1:c.2736T>A | ENSP00000497203.1:p.Leu912= | |
| ENST00000003084.10:c.2919T>A | ENSP00000003084.6:p.Leu973= | |
| ENST00000426809.5:c.2829T>A | ENSP00000389119.1:p.Leu943= | |
| NM_000492.3:c.2919T>A , LRG_663t1:c.2919T>A | NP_000483.3:p.Leu973= | |
| XM_011515751.1:c.3009T>A | XP_011514053.1:p.Leu1003= | |
| XM_011515752.1:c.3009T>A | XP_011514054.1:p.Leu1003= | |
| XM_011515753.1:c.2676T>A | XP_011514055.1:p.Leu892= | |
| XM_011515754.1:c.2676T>A | XP_011514056.1:p.Leu892= | |
| NM_000492.4:c.2919T>A MANE Select | NP_000483.3:p.Leu973= |