Linked Data
ClinVar Variation Id:
3981
ClinVar RCV Id:
RCV000004188
dbSNP Id:
rs104894106
ExAC:
9:71679929 A / T
gnomAD v2:
9-71679929-A-T
gnomAD v3:
9-69065013-A-T
gnomAD v4:
9-69065013-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69065013A>T , CM000671.2:g.69065013A>T | GRCh38 |
| NC_000009.11:g.71679929A>T , CM000671.1:g.71679929A>T | GRCh37 |
| NC_000009.10:g.70869749A>T | NCBI36 |
| NG_008845.2:g.34451A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377270.8:c.235A>T | ENSP00000366482.4:p.Ile79Phe | |
| ENST00000484259.3:c.460A>T MANE Select | ENSP00000419243.2:p.Ile154Phe | |
| ENST00000642330.1:c.384+11753A>T | ENSP00000493770.1:n.384+11753A>T | |
| ENST00000642889.1:c.165+29066A>T | ENSP00000493780.1:n.165+29066A>T | |
| ENST00000643352.1:c.460A>T | ENSP00000496488.1:p.Ile154Phe | |
| ENST00000643765.1:c.458A>T | ||
| ENST00000644653.1:c.*63A>T | ENSP00000495217.1:n.*63A>T | |
| ENST00000644977.1:c.*185A>T | ENSP00000495651.1:n.*185A>T | |
| ENST00000645088.1:c.*63A>T | ENSP00000495447.1:n.*63A>T | |
| ENST00000646862.1:c.384+11753A>T | ENSP00000494599.1:n.384+11753A>T | |
| ENST00000377270.7:c.460A>T | ENSP00000366482.3:p.Ile154Phe | |
| ENST00000396364.7:c.460A>T | ENSP00000379650.3:p.Ile154Phe | |
| ENST00000396366.6:c.460A>T | ENSP00000379652.2:p.Ile154Phe | |
| ENST00000484259.1:c.152A>T | ||
| ENST00000498653.5:c.235A>T | ENSP00000418015.1:p.Ile79Phe | |
| NM_000144.4:c.460A>T | NP_000135.2:p.Ile154Phe | |
| NM_001161706.1:c.460A>T | NP_001155178.1:p.Ile154Phe | |
| NM_181425.2:c.460A>T | NP_852090.1:p.Ile154Phe | |
| NM_000144.5:c.460A>T MANE Select | NP_000135.2:p.Ile154Phe | |
| NM_181425.3:c.460A>T | NP_852090.1:p.Ile154Phe |