Linked Data
ClinVar Variation Id:
2453656
ClinVar RCV Id:
RCV003187791
dbSNP Id:
rs1431039536
gnomAD v2:
7-117282498-C-T
gnomAD v4:
7-117642444-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642444C>T , CM000669.2:g.117642444C>T | GRCh38 |
| NC_000007.13:g.117282498C>T , CM000669.1:g.117282498C>T | GRCh37 |
| NC_000007.12:g.117069734C>T | NCBI36 |
| NG_016465.4:g.181661C>T , LRG_663:g.181661C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3524C>T | ENSP00000497673.2:p.Pro1175Leu | |
| ENST00000647978.2:c.*3438C>T | ENSP00000497658.1:n.*3438C>T | |
| ENST00000649781.2:c.3541C>T | ENSP00000497203.1:p.Leu1181Phe | |
| ENST00000685018.2:c.3724C>T | ENSP00000510194.2:p.Leu1242Phe | |
| ENST00000687278.2:c.*377C>T | ENSP00000509593.2:n.*377C>T | |
| ENST00000699585.1:c.3524C>T | ENSP00000514456.1:p.Pro1175Leu | |
| ENST00000699598.1:c.3724C>T | ENSP00000514467.1:p.Leu1242Phe | |
| ENST00000699599.1:c.3724C>T | ENSP00000514468.1:p.Leu1242Phe | |
| ENST00000699600.1:c.*385C>T | ENSP00000514469.1:n.*385C>T | |
| ENST00000699601.1:c.*2099C>T | ENSP00000514470.1:n.*2099C>T | |
| ENST00000699602.1:c.3718C>T | ENSP00000514471.1:p.Leu1240Phe | |
| ENST00000699604.1:c.*3548C>T | ENSP00000514472.1:n.*3548C>T | |
| ENST00000699605.1:c.3298C>T | ENSP00000514473.1:p.Leu1100Phe | |
| ENST00000685018.1:c.472C>T | ENSP00000510194.1:p.Leu158Phe | |
| ENST00000687278.1:c.1511C>T | ENSP00000509593.1:n.1511C>T | |
| ENST00000689011.1:c.306C>T | ||
| ENST00000003084.11:c.3724C>T MANE Select | ENSP00000003084.6:p.Leu1242Phe | |
| ENST00000647720.1:c.1174C>T | ||
| ENST00000649781.1:c.3541C>T | ENSP00000497203.1:p.Leu1181Phe | |
| ENST00000003084.10:c.3724C>T | ENSP00000003084.6:p.Leu1242Phe | |
| ENST00000426809.5:c.3634C>T | ENSP00000389119.1:p.Leu1212Phe | |
| NM_000492.3:c.3724C>T , LRG_663t1:c.3724C>T | NP_000483.3:p.Leu1242Phe | |
| XM_011515751.1:c.3814C>T | XP_011514053.1:p.Leu1272Phe | |
| XM_011515752.1:c.3814C>T | XP_011514054.1:p.Leu1272Phe | |
| XM_011515753.1:c.3481C>T | XP_011514055.1:p.Leu1161Phe | |
| XM_011515754.1:c.3481C>T | XP_011514056.1:p.Leu1161Phe | |
| NM_000492.4:c.3724C>T MANE Select | NP_000483.3:p.Leu1242Phe |