Linked Data
ClinVar Variation Id:
495920
dbSNP Id:
rs758250836
ExAC:
7:117246795 T / A
gnomAD v2:
7-117246795-T-A
gnomAD v4:
7-117606741-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117606741T>A , CM000669.2:g.117606741T>A | GRCh38 |
| NC_000007.13:g.117246795T>A , CM000669.1:g.117246795T>A | GRCh37 |
| NC_000007.12:g.117034031T>A | NCBI36 |
| NG_016465.4:g.145958T>A , LRG_663:g.145958T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2976T>A | ENSP00000497673.2:p.Phe992Leu | |
| ENST00000647978.2:c.*2690T>A | ENSP00000497658.1:n.*2690T>A | |
| ENST00000649781.2:c.2793T>A | ENSP00000497203.1:p.Phe931Leu | |
| ENST00000685018.2:c.2976T>A | ENSP00000510194.2:p.Phe992Leu | |
| ENST00000687278.2:c.2976T>A | ENSP00000509593.2:p.Phe992Leu | |
| ENST00000699585.1:c.2976T>A | ENSP00000514456.1:p.Phe992Leu | |
| ENST00000699598.1:c.2976T>A | ENSP00000514467.1:p.Phe992Leu | |
| ENST00000699599.1:c.2976T>A | ENSP00000514468.1:p.Phe992Leu | |
| ENST00000699600.1:c.2976T>A | ENSP00000514469.1:p.Phe992Leu | |
| ENST00000699601.1:c.*1276T>A | ENSP00000514470.1:n.*1276T>A | |
| ENST00000699602.1:c.2976T>A | ENSP00000514471.1:p.Phe992Leu | |
| ENST00000699604.1:c.*2800T>A | ENSP00000514472.1:n.*2800T>A | |
| ENST00000699605.1:c.2550T>A | ENSP00000514473.1:p.Phe850Leu | |
| ENST00000687278.1:c.567T>A | ENSP00000509593.1:p.Phe189Leu | |
| ENST00000003084.11:c.2976T>A MANE Select | ENSP00000003084.6:p.Phe992Leu | |
| ENST00000647720.1:c.626T>A | ||
| ENST00000648260.1:c.1758T>A | ENSP00000497957.1:p.Phe586Leu | |
| ENST00000649406.1:c.2793T>A | ENSP00000497965.1:p.Phe931Leu | |
| ENST00000649781.1:c.2793T>A | ENSP00000497203.1:p.Phe931Leu | |
| ENST00000003084.10:c.2976T>A | ENSP00000003084.6:p.Phe992Leu | |
| ENST00000426809.5:c.2886T>A | ENSP00000389119.1:p.Phe962Leu | |
| NM_000492.3:c.2976T>A , LRG_663t1:c.2976T>A | NP_000483.3:p.Phe992Leu | |
| XM_011515751.1:c.3066T>A | XP_011514053.1:p.Phe1022Leu | |
| XM_011515752.1:c.3066T>A | XP_011514054.1:p.Phe1022Leu | |
| XM_011515753.1:c.2733T>A | XP_011514055.1:p.Phe911Leu | |
| XM_011515754.1:c.2733T>A | XP_011514056.1:p.Phe911Leu | |
| NM_000492.4:c.2976T>A MANE Select | NP_000483.3:p.Phe992Leu |