Linked Data
ClinVar Variation Id:
1588305
ClinVar RCV Id:
RCV002096003
dbSNP Id:
rs768276513
gnomAD v4:
7-117614672-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614672T>C , CM000669.2:g.117614672T>C | GRCh38 |
| NC_000007.13:g.117254726T>C , CM000669.1:g.117254726T>C | GRCh37 |
| NC_000007.12:g.117041962T>C | NCBI36 |
| NG_016465.4:g.153889T>C , LRG_663:g.153889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3427T>C | ENSP00000497673.2:p.Leu1143= | |
| ENST00000647978.2:c.*3141T>C | ENSP00000497658.1:n.*3141T>C | |
| ENST00000649781.2:c.3244T>C | ENSP00000497203.1:p.Leu1082= | |
| ENST00000685018.2:c.3427T>C | ENSP00000510194.2:p.Leu1143= | |
| ENST00000687278.2:c.3427T>C | ENSP00000509593.2:p.Leu1143= | |
| ENST00000699585.1:c.3427T>C | ENSP00000514456.1:p.Leu1143= | |
| ENST00000699598.1:c.3427T>C | ENSP00000514467.1:p.Leu1143= | |
| ENST00000699599.1:c.3427T>C | ENSP00000514468.1:p.Leu1143= | |
| ENST00000699600.1:c.3427T>C | ENSP00000514469.1:p.Leu1143= | |
| ENST00000699601.1:c.*1802T>C | ENSP00000514470.1:n.*1802T>C | |
| ENST00000699602.1:c.3421T>C | ENSP00000514471.1:p.Leu1141= | |
| ENST00000699604.1:c.*3251T>C | ENSP00000514472.1:n.*3251T>C | |
| ENST00000699605.1:c.3001T>C | ENSP00000514473.1:p.Leu1001= | |
| ENST00000685018.1:c.175T>C | ENSP00000510194.1:p.Leu59= | |
| ENST00000687278.1:c.1018T>C | ENSP00000509593.1:p.Leu340= | |
| ENST00000689011.1:c.9T>C | ||
| ENST00000003084.11:c.3427T>C MANE Select | ENSP00000003084.6:p.Leu1143= | |
| ENST00000647720.1:c.1077T>C | ||
| ENST00000648260.1:c.2209T>C | ENSP00000497957.1:p.Leu737= | |
| ENST00000649406.1:c.3244T>C | ENSP00000497965.1:p.Leu1082= | |
| ENST00000649781.1:c.3244T>C | ENSP00000497203.1:p.Leu1082= | |
| ENST00000003084.10:c.3427T>C | ENSP00000003084.6:p.Leu1143= | |
| ENST00000426809.5:c.3337T>C | ENSP00000389119.1:p.Leu1113= | |
| ENST00000468795.1:c.252T>C | ||
| NM_000492.3:c.3427T>C , LRG_663t1:c.3427T>C | NP_000483.3:p.Leu1143= | |
| XM_011515751.1:c.3517T>C | XP_011514053.1:p.Leu1173= | |
| XM_011515752.1:c.3517T>C | XP_011514054.1:p.Leu1173= | |
| XM_011515753.1:c.3184T>C | XP_011514055.1:p.Leu1062= | |
| XM_011515754.1:c.3184T>C | XP_011514056.1:p.Leu1062= | |
| NM_000492.4:c.3427T>C MANE Select | NP_000483.3:p.Leu1143= |