Linked Data
dbSNP Id:
rs371381906
ExAC:
2:175689186 T / C
gnomAD v2:
2-175689186-T-C
gnomAD v4:
2-174824458-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824458T>C , CM000664.2:g.174824458T>C | GRCh38 |
| NC_000002.11:g.175689186T>C , CM000664.1:g.175689186T>C | GRCh37 |
| NC_000002.10:g.175397432T>C | NCBI36 |
| NG_012642.1:g.185985A>G | |
| NG_012642.2:g.185985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.313A>G | ENSP00000295497.7:p.Ile105Val | |
| ENST00000444394.7:c.313A>G | ENSP00000411911.2:p.Ile105Val | |
| ENST00000295497.12:c.313A>G | ENSP00000295497.7:p.Ile105Val | |
| ENST00000409089.7:c.13A>G | ENSP00000386322.3:p.Ile5Val | |
| ENST00000409900.9:c.688A>G MANE Select | ENSP00000386741.4:p.Ile230Val | |
| ENST00000413882.6:c.142A>G | ENSP00000410496.2:p.Ile48Val | |
| ENST00000425395.6:c.*135A>G | ENSP00000405270.2:n.*135A>G | |
| ENST00000443238.6:c.166A>G | ENSP00000409798.2:p.Ile56Val | |
| ENST00000444394.6:c.313A>G | ENSP00000411911.2:p.Ile105Val | |
| ENST00000444573.2:c.532A>G | ENSP00000392603.2:p.Ile178Val | |
| ENST00000488080.6:n.331A>G | ||
| ENST00000650731.1:c.13A>G | ENSP00000499146.1:p.Ile5Val | |
| ENST00000650938.1:c.212A>G | ||
| ENST00000651246.1:c.280A>G | ENSP00000498484.1:p.Ile94Val | |
| ENST00000651373.1:c.202A>G | ENSP00000499174.1:p.Ile68Val | |
| ENST00000651501.1:c.*135A>G | ENSP00000498894.1:n.*135A>G | |
| ENST00000651717.1:c.253-11976A>G | ENSP00000499124.1:n.253-11976A>G | |
| ENST00000652036.1:c.313A>G | ENSP00000499139.1:p.Ile105Val | |
| ENST00000652154.1:n.586A>G | ||
| ENST00000295497.11:c.313A>G | ENSP00000295497.7:p.Ile105Val | |
| ENST00000409089.6:c.13A>G | ENSP00000386322.2:p.Ile5Val | |
| ENST00000409156.7:c.610A>G | ENSP00000386470.3:p.Ile204Val | |
| ENST00000409597.5:c.136A>G | ENSP00000386469.1:p.Ile46Val | |
| ENST00000409900.7:c.688A>G | ENSP00000386741.3:p.Ile230Val | |
| ENST00000413882.5:c.142A>G | ENSP00000410496.1:p.Ile48Val | |
| ENST00000425395.5:c.*239A>G | ENSP00000405270.1:n.*239A>G | |
| ENST00000443238.5:c.166A>G | ENSP00000409798.1:p.Ile56Val | |
| ENST00000444394.5:c.13A>G | ENSP00000411911.1:p.Ile5Val | |
| ENST00000444573.1:c.313A>G | ENSP00000392603.1:p.Ile105Val | |
| ENST00000485882.1:n.147A>G | ||
| ENST00000488080.5:n.539A>G | ||
| NM_001025201.3:c.610A>G | NP_001020372.2:p.Ile204Val | |
| NM_001206602.1:c.313A>G | NP_001193531.1:p.Ile105Val | |
| NM_001822.5:c.688A>G | NP_001813.1:p.Ile230Val | |
| NR_038133.1:n.554A>G | ||
| NM_001025201.4:c.610A>G | NP_001020372.2:p.Ile204Val | |
| NM_001206602.2:c.313A>G | NP_001193531.1:p.Ile105Val | |
| NM_001371513.1:c.688A>G | NP_001358442.1:p.Ile230Val | |
| NM_001371514.1:c.739A>G | NP_001358443.1:p.Ile247Val | |
| NM_001822.7:c.688A>G MANE Select | NP_001813.1:p.Ile230Val | |
| NR_038133.2:n.556A>G |