Linked Data
ClinVar Variation Id:
969873
dbSNP Id:
rs768411899
ExAC:
7:117282536 A / T
gnomAD v2:
7-117282536-A-T
gnomAD v3:
7-117642482-A-T
gnomAD v4:
7-117642482-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642482A>T , CM000669.2:g.117642482A>T | GRCh38 |
| NC_000007.13:g.117282536A>T , CM000669.1:g.117282536A>T | GRCh37 |
| NC_000007.12:g.117069772A>T | NCBI36 |
| NG_016465.4:g.181699A>T , LRG_663:g.181699A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3562A>T | ENSP00000497673.2:p.Ile1188Phe | |
| ENST00000647978.2:c.*3476A>T | ENSP00000497658.1:n.*3476A>T | |
| ENST00000649781.2:c.3579A>T | ENSP00000497203.1:p.Leu1193Phe | |
| ENST00000685018.2:c.3762A>T | ENSP00000510194.2:p.Leu1254Phe | |
| ENST00000687278.2:c.*415A>T | ENSP00000509593.2:n.*415A>T | |
| ENST00000699585.1:c.3562A>T | ENSP00000514456.1:p.Ile1188Phe | |
| ENST00000699598.1:c.3762A>T | ENSP00000514467.1:p.Leu1254Phe | |
| ENST00000699599.1:c.3762A>T | ENSP00000514468.1:p.Leu1254Phe | |
| ENST00000699600.1:c.*423A>T | ENSP00000514469.1:n.*423A>T | |
| ENST00000699601.1:c.*2137A>T | ENSP00000514470.1:n.*2137A>T | |
| ENST00000699602.1:c.3756A>T | ENSP00000514471.1:p.Leu1252Phe | |
| ENST00000699604.1:c.*3586A>T | ENSP00000514472.1:n.*3586A>T | |
| ENST00000699605.1:c.3336A>T | ENSP00000514473.1:p.Leu1112Phe | |
| ENST00000685018.1:c.510A>T | ENSP00000510194.1:p.Leu170Phe | |
| ENST00000687278.1:c.1549A>T | ENSP00000509593.1:n.1549A>T | |
| ENST00000689011.1:c.344A>T | ||
| ENST00000003084.11:c.3762A>T MANE Select | ENSP00000003084.6:p.Leu1254Phe | |
| ENST00000647720.1:c.1212A>T | ||
| ENST00000649781.1:c.3579A>T | ENSP00000497203.1:p.Leu1193Phe | |
| ENST00000003084.10:c.3762A>T | ENSP00000003084.6:p.Leu1254Phe | |
| ENST00000426809.5:c.3672A>T | ENSP00000389119.1:p.Leu1224Phe | |
| NM_000492.3:c.3762A>T , LRG_663t1:c.3762A>T | NP_000483.3:p.Leu1254Phe | |
| XM_011515751.1:c.3852A>T | XP_011514053.1:p.Leu1284Phe | |
| XM_011515752.1:c.3852A>T | XP_011514054.1:p.Leu1284Phe | |
| XM_011515753.1:c.3519A>T | XP_011514055.1:p.Leu1173Phe | |
| XM_011515754.1:c.3519A>T | XP_011514056.1:p.Leu1173Phe | |
| NM_000492.4:c.3762A>T MANE Select | NP_000483.3:p.Leu1254Phe |