Linked Data
ClinVar Variation Id:
134125
dbSNP Id:
rs587778278
ExAC:
2:128050350 T / C
gnomAD v2:
2-128050350-T-C
gnomAD v3:
2-127292774-T-C
gnomAD v4:
2-127292774-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127292774T>C , CM000664.2:g.127292774T>C | GRCh38 |
| NC_000002.11:g.128050350T>C , CM000664.1:g.128050350T>C | GRCh37 |
| NC_000002.10:g.127766820T>C | NCBI36 |
| NG_007454.1:g.6403A>G , LRG_462:g.6403A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.307A>G MANE Select | ENSP00000285398.2:p.Ile103Val | |
| ENST00000642308.1:c.307A>G | ENSP00000496684.1:p.Ile103Val | |
| ENST00000644317.1:c.235-70A>G | ENSP00000494012.1:n.235-70A>G | |
| ENST00000645233.1:c.307A>G | ENSP00000494116.1:p.Ile103Val | |
| ENST00000645467.1:c.307A>G | ENSP00000494889.1:p.Ile103Val | |
| ENST00000645736.1:c.163A>G | ENSP00000494545.1:p.Ile55Val | |
| ENST00000646654.1:c.307A>G | ENSP00000494526.1:p.Ile103Val | |
| ENST00000647169.1:c.307A>G | ENSP00000495619.1:p.Ile103Val | |
| ENST00000285398.6:c.307A>G | ENSP00000285398.2:p.Ile103Val | |
| ENST00000426778.5:c.*288A>G | ENSP00000415335.1:n.*288A>G | |
| ENST00000445889.5:c.*350A>G | ENSP00000390888.1:n.*350A>G | |
| ENST00000462306.5:n.291-70A>G | ||
| ENST00000490062.1:n.307-70A>G | ||
| ENST00000494464.5:n.261-70A>G | ||
| NM_000122.1:c.307A>G , LRG_462t1:c.307A>G | NP_000113.1:p.Ile103Val | |
| NM_001303416.1:c.115A>G | NP_001290345.1:p.Ile39Val | |
| NM_001303418.1:c.115A>G | NP_001290347.1:p.Ile39Val | |
| XM_011510794.1:c.307A>G | XP_011509096.1:p.Ile103Val | |
| XM_011510795.1:c.-80-70A>G | XP_011509097.1:n.-80-70A>G | |
| XM_011510794.2:c.307A>G | XP_011509096.1:p.Ile103Val | |
| XM_017003583.1:c.-80-70A>G | XP_016859072.1:n.-80-70A>G | |
| NM_000122.2:c.307A>G MANE Select | NP_000113.1:p.Ile103Val | |
| NM_001303416.2:c.115A>G | NP_001290345.1:p.Ile39Val | |
| NM_001303418.2:c.115A>G | NP_001290347.1:p.Ile39Val |