Linked Data
ClinVar Variation Id:
2149091
ClinVar RCV Id:
RCV003065307
dbSNP Id:
rs755291650
ExAC:
7:117243787 A / G
gnomAD v2:
7-117243787-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603733A>G , CM000669.2:g.117603733A>G | GRCh38 |
| NC_000007.13:g.117243787A>G , CM000669.1:g.117243787A>G | GRCh37 |
| NC_000007.12:g.117031023A>G | NCBI36 |
| NG_016465.4:g.142950A>G , LRG_663:g.142950A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2859A>G | ENSP00000497673.2:p.Leu953= | |
| ENST00000647978.2:c.*2573A>G | ENSP00000497658.1:n.*2573A>G | |
| ENST00000649781.2:c.2676A>G | ENSP00000497203.1:p.Leu892= | |
| ENST00000685018.2:c.2859A>G | ENSP00000510194.2:p.Leu953= | |
| ENST00000687278.2:c.2859A>G | ENSP00000509593.2:p.Leu953= | |
| ENST00000699585.1:c.2859A>G | ENSP00000514456.1:p.Leu953= | |
| ENST00000699598.1:c.2859A>G | ENSP00000514467.1:p.Leu953= | |
| ENST00000699599.1:c.2859A>G | ENSP00000514468.1:p.Leu953= | |
| ENST00000699600.1:c.2859A>G | ENSP00000514469.1:p.Leu953= | |
| ENST00000699601.1:c.*1159A>G | ENSP00000514470.1:n.*1159A>G | |
| ENST00000699602.1:c.2859A>G | ENSP00000514471.1:p.Leu953= | |
| ENST00000699604.1:c.*2683A>G | ENSP00000514472.1:n.*2683A>G | |
| ENST00000699605.1:c.2433A>G | ENSP00000514473.1:p.Leu811= | |
| ENST00000687278.1:c.450A>G | ENSP00000509593.1:p.Leu150= | |
| ENST00000003084.11:c.2859A>G MANE Select | ENSP00000003084.6:p.Leu953= | |
| ENST00000647720.1:c.509A>G | ||
| ENST00000648260.1:c.1641A>G | ENSP00000497957.1:p.Leu547= | |
| ENST00000649406.1:c.2676A>G | ENSP00000497965.1:p.Leu892= | |
| ENST00000649781.1:c.2676A>G | ENSP00000497203.1:p.Leu892= | |
| ENST00000003084.10:c.2859A>G | ENSP00000003084.6:p.Leu953= | |
| ENST00000426809.5:c.2769A>G | ENSP00000389119.1:p.Leu923= | |
| NM_000492.3:c.2859A>G , LRG_663t1:c.2859A>G | NP_000483.3:p.Leu953= | |
| XM_011515751.1:c.2949A>G | XP_011514053.1:p.Leu983= | |
| XM_011515752.1:c.2949A>G | XP_011514054.1:p.Leu983= | |
| XM_011515753.1:c.2616A>G | XP_011514055.1:p.Leu872= | |
| XM_011515754.1:c.2616A>G | XP_011514056.1:p.Leu872= | |
| NM_000492.4:c.2859A>G MANE Select | NP_000483.3:p.Leu953= |