Linked Data
ClinVar Variation Id:
756
ClinVar RCV Id:
RCV000000792
dbSNP Id:
rs118203904
ExAC:
2:233655527 A / G
gnomAD v2:
2-233655527-A-G
gnomAD v3:
2-232790817-A-G
gnomAD v4:
2-232790817-A-G
PubMed:
PMID:18358451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232790817A>G , CM000664.2:g.232790817A>G | GRCh38 |
| NC_000002.11:g.233655527A>G , CM000664.1:g.233655527A>G | GRCh37 |
| NC_000002.10:g.233363771A>G | NCBI36 |
| NG_011847.1:g.98513A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373563.9:c.832A>G MANE Select | ENSP00000362664.5:p.Ile278Val | |
| ENST00000676848.1:c.178A>G | ENSP00000503313.1:p.Ile60Val | |
| ENST00000677450.1:c.313A>G | ENSP00000503420.1:p.Ile105Val | |
| ENST00000677591.1:c.88A>G | ENSP00000503061.1:p.Ile30Val | |
| ENST00000678230.1:c.325A>G | ENSP00000504272.1:p.Ile109Val | |
| ENST00000678339.1:c.88A>G | ENSP00000503437.1:p.Ile30Val | |
| ENST00000678466.1:c.88A>G | ENSP00000504219.1:p.Ile30Val | |
| ENST00000678885.1:c.88A>G | ENSP00000503563.1:p.Ile30Val | |
| ENST00000373563.8:c.832A>G | ENSP00000362664.4:p.Ile278Val | |
| ENST00000409196.7:c.814A>G | ENSP00000387070.3:p.Ile272Val | |
| ENST00000409451.7:c.898A>G | ENSP00000387170.3:p.Ile300Val | |
| ENST00000409480.5:c.898A>G | ENSP00000386765.1:p.Ile300Val | |
| ENST00000409547.5:c.832A>G | ENSP00000386537.1:p.Ile278Val | |
| ENST00000410033.1:c.178A>G | ENSP00000387276.1:p.Ile60Val | |
| ENST00000423659.5:c.661A>G | ENSP00000404195.1:p.Ile221Val | |
| ENST00000424414.6:c.88A>G | ENSP00000401261.2:p.Ile30Val | |
| ENST00000427649.5:c.88A>G | ENSP00000398055.1:p.Ile30Val | |
| ENST00000436349.5:c.88A>G | ENSP00000400076.1:p.Ile30Val | |
| ENST00000440945.5:c.814A>G | ENSP00000410297.1:p.Ile272Val | |
| ENST00000445650.5:c.325A>G | ENSP00000392218.1:p.Ile109Val | |
| ENST00000455139.5:c.88A>G | ENSP00000395299.1:p.Ile30Val | |
| ENST00000458528.1:c.107+71A>G | ENSP00000389322.1:n.107+71A>G | |
| ENST00000629305.2:c.898A>G | ENSP00000487548.1:p.Ile300Val | |
| NM_001103146.1:c.832A>G | NP_001096616.1:p.Ile278Val | |
| NM_001103147.1:c.898A>G | NP_001096617.1:p.Ile300Val | |
| NM_001103148.1:c.814A>G | NP_001096618.1:p.Ile272Val | |
| NM_015575.3:c.832A>G | NP_056390.2:p.Ile278Val | |
| NR_103492.1:n.945A>G | ||
| NM_001103146.3:c.832A>G MANE Select | NP_001096616.1:p.Ile278Val | |
| NM_001103147.2:c.898A>G | NP_001096617.1:p.Ile300Val | |
| NM_001103148.2:c.814A>G | NP_001096618.1:p.Ile272Val | |
| NM_015575.4:c.832A>G | NP_056390.2:p.Ile278Val |