Linked Data
dbSNP Id:
rs1412585504
gnomAD v2:
1-197060108-T-C
gnomAD v3:
1-197090978-T-C
gnomAD v4:
1-197090978-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090978T>C , CM000663.2:g.197090978T>C | GRCh38 |
| NC_000001.10:g.197060108T>C , CM000663.1:g.197060108T>C | GRCh37 |
| NC_000001.9:g.195326731T>C | NCBI36 |
| NG_015867.1:g.60717A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2795A>G | ||
| ENST00000367409.9:c.9508A>G MANE Select | ENSP00000356379.4:p.Ile3170Val | |
| ENST00000680265.1:c.9730A>G | ENSP00000505384.1:p.Ile3244Val | |
| ENST00000680710.1:c.9484A>G | ENSP00000506676.1:p.Ile3162Val | |
| ENST00000294732.11:c.4753A>G | ENSP00000294732.7:p.Ile1585Val | |
| ENST00000367408.5:c.2503A>G | ENSP00000356378.1:p.Ile835Val | |
| ENST00000367409.8:c.9508A>G | ENSP00000356379.4:p.Ile3170Val | |
| ENST00000612785.1:c.3466A>G | ENSP00000479244.1:p.Ile1156Val | |
| NM_001206846.1:c.4753A>G | NP_001193775.1:p.Ile1585Val | |
| NM_018136.4:c.9508A>G | NP_060606.3:p.Ile3170Val | |
| NM_018136.5:c.9508A>G MANE Select | NP_060606.3:p.Ile3170Val | |
| NM_001206846.2:c.4753A>G | NP_001193775.1:p.Ile1585Val |