Linked Data
ClinVar Variation Id:
35894
ClinVar RCV Id:
RCV000029549
RCV000590210
RCV001165382
RCV001526859
RCV001801915
RCV001588829
RCV003473147
dbSNP Id:
rs144476686
ExAC:
7:117180242 T / G
gnomAD v2:
7-117180242-T-G
gnomAD v3:
7-117540188-T-G
gnomAD v4:
7-117540188-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117540188T>G , CM000669.2:g.117540188T>G | GRCh38 |
| NC_000007.13:g.117180242T>G , CM000669.1:g.117180242T>G | GRCh37 |
| NC_000007.12:g.116967478T>G | NCBI36 |
| NG_016465.4:g.79405T>G , LRG_663:g.79405T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.958T>G | ENSP00000497673.2:p.Leu320Val | |
| ENST00000647978.2:c.*855T>G | ENSP00000497658.1:n.*855T>G | |
| ENST00000649781.2:c.958T>G | ENSP00000497203.1:p.Leu320Val | |
| ENST00000685018.2:c.958T>G | ENSP00000510194.2:p.Leu320Val | |
| ENST00000687278.2:c.958T>G | ENSP00000509593.2:p.Leu320Val | |
| ENST00000699585.1:c.958T>G | ENSP00000514456.1:p.Leu320Val | |
| ENST00000699596.1:c.958T>G | ENSP00000514465.1:p.Leu320Val | |
| ENST00000699597.1:c.958T>G | ENSP00000514466.1:p.Leu320Val | |
| ENST00000699598.1:c.958T>G | ENSP00000514467.1:p.Leu320Val | |
| ENST00000699599.1:c.958T>G | ENSP00000514468.1:p.Leu320Val | |
| ENST00000699600.1:c.958T>G | ENSP00000514469.1:p.Leu320Val | |
| ENST00000699601.1:c.958T>G | ENSP00000514470.1:p.Leu320Val | |
| ENST00000699602.1:c.958T>G | ENSP00000514471.1:p.Leu320Val | |
| ENST00000699604.1:c.*782T>G | ENSP00000514472.1:n.*782T>G | |
| ENST00000699605.1:c.715T>G | ENSP00000514473.1:p.Leu239Val | |
| ENST00000003084.11:c.958T>G MANE Select | ENSP00000003084.6:p.Leu320Val | |
| ENST00000647978.1:c.*855T>G | ENSP00000497658.1:n.*855T>G | |
| ENST00000648260.1:c.958T>G | ENSP00000497957.1:p.Leu320Val | |
| ENST00000649406.1:c.958T>G | ENSP00000497965.1:p.Leu320Val | |
| ENST00000649781.1:c.958T>G | ENSP00000497203.1:p.Leu320Val | |
| ENST00000673785.1:c.715T>G | ENSP00000501235.1:p.Leu239Val | |
| ENST00000003084.10:c.958T>G | ENSP00000003084.6:p.Leu320Val | |
| ENST00000426809.5:c.868T>G | ENSP00000389119.1:p.Leu290Val | |
| NM_000492.3:c.958T>G , LRG_663t1:c.958T>G | NP_000483.3:p.Leu320Val | |
| XM_011515751.1:c.1048T>G | XP_011514053.1:p.Leu350Val | |
| XM_011515752.1:c.1048T>G | XP_011514054.1:p.Leu350Val | |
| XM_011515753.1:c.715T>G | XP_011514055.1:p.Leu239Val | |
| XM_011515754.1:c.715T>G | XP_011514056.1:p.Leu239Val | |
| NM_000492.4:c.958T>G MANE Select | NP_000483.3:p.Leu320Val |