Linked Data
ClinVar Variation Id:
476747
ClinVar RCV Id:
RCV000529259
RCV000789773
RCV000790255
RCV000992024
RCV001542256
RCV001770486
RCV003447145
dbSNP Id:
rs1554338260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612214A>T , CM000669.2:g.30612214A>T | GRCh38 |
| NC_000007.13:g.30651830A>T , CM000669.1:g.30651830A>T | GRCh37 |
| NC_000007.12:g.30618355A>T | NCBI36 |
| NG_007942.1:g.22650A>T , LRG_243:g.22650A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1000A>T MANE Select | ENSP00000373918.3:p.Ile334Phe | |
| ENST00000444666.6:c.1000A>T | ENSP00000415447.2:p.Ile334Phe | |
| ENST00000470392.2:n.1090A>T | ||
| ENST00000478124.6:n.1063A>T | ||
| ENST00000485784.2:n.1079A>T | ||
| ENST00000674616.1:c.*714A>T | ENSP00000502408.1:n.*714A>T | |
| ENST00000674643.1:c.1000A>T | ENSP00000501636.1:p.Ile334Phe | |
| ENST00000674734.1:n.1496A>T | ||
| ENST00000674737.1:c.*338A>T | ENSP00000502464.1:n.*338A>T | |
| ENST00000674807.1:c.1000A>T | ENSP00000502814.1:p.Ile334Phe | |
| ENST00000674815.1:c.631A>T | ENSP00000502799.1:p.Ile211Phe | |
| ENST00000674851.1:c.631A>T | ENSP00000502451.1:p.Ile211Phe | |
| ENST00000674969.1:n.2873A>T | ||
| ENST00000675051.1:c.799A>T | ENSP00000502296.1:p.Ile267Phe | |
| ENST00000675529.1:c.*870A>T | ENSP00000501655.1:n.*870A>T | |
| ENST00000675587.1:n.1016A>T | ||
| ENST00000675651.1:c.1000A>T | ENSP00000502513.1:p.Ile334Phe | |
| ENST00000675693.1:c.832A>T | ENSP00000502174.1:p.Ile278Phe | |
| ENST00000675810.1:c.898A>T | ENSP00000502743.1:p.Ile300Phe | |
| ENST00000675859.1:c.1000A>T | ENSP00000502033.1:p.Ile334Phe | |
| ENST00000675863.1:n.1008A>T | ||
| ENST00000675886.1:n.7040A>T | ||
| ENST00000676088.1:c.*942A>T | ENSP00000501884.1:n.*942A>T | |
| ENST00000676140.1:c.1000A>T | ENSP00000502571.1:p.Ile334Phe | |
| ENST00000676164.1:c.*451A>T | ENSP00000501986.1:n.*451A>T | |
| ENST00000676210.1:c.*289A>T | ENSP00000502373.1:n.*289A>T | |
| ENST00000676259.1:c.*432A>T | ENSP00000501980.1:n.*432A>T | |
| ENST00000676403.1:c.1000A>T | ENSP00000502681.1:p.Ile334Phe | |
| ENST00000389266.7:c.1000A>T | ENSP00000373918.3:p.Ile334Phe | |
| ENST00000478124.5:n.1038A>T | ||
| NM_001316772.1:c.838A>T | NP_001303701.1:p.Ile280Phe | |
| NM_002047.2:c.1000A>T , LRG_243t1:c.1000A>T | NP_002038.2:p.Ile334Phe | |
| NM_002047.3:c.1000A>T | NP_002038.2:p.Ile334Phe | |
| XM_006715686.1:c.631A>T | XP_006715749.1:p.Ile211Phe | |
| XM_006715686.2:c.631A>T | XP_006715749.1:p.Ile211Phe | |
| NM_002047.4:c.1000A>T MANE Select | NP_002038.2:p.Ile334Phe |