Linked Data
dbSNP Id:
rs777079870
ExAC:
10:103534588 T / C
gnomAD v2:
10-103534588-T-C
gnomAD v4:
10-101774831-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101774831T>C , CM000672.2:g.101774831T>C | GRCh38 |
| NC_000010.10:g.103534588T>C , CM000672.1:g.103534588T>C | GRCh37 |
| NC_000010.9:g.103524578T>C | NCBI36 |
| NG_007151.1:g.6240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.238A>G MANE Select | ENSP00000321797.2:p.Ile80Val | |
| ENST00000618991.5:c.-75A>G | ENSP00000484420.1:n.-75A>G | |
| ENST00000344255.8:c.205A>G | ENSP00000340039.3:p.Ile69Val | |
| ENST00000320185.6:c.238A>G | ENSP00000321797.2:p.Ile80Val | |
| ENST00000344255.7:c.205A>G | ENSP00000340039.3:p.Ile69Val | |
| ENST00000346714.7:c.118A>G | ENSP00000344306.3:p.Ile40Val | |
| ENST00000347978.2:c.151A>G | ENSP00000321945.2:p.Ile51Val | |
| ENST00000469792.6:c.*202A>G | ENSP00000473299.1:n.*202A>G | |
| ENST00000485728.1:n.114A>G | ||
| ENST00000618991.4:c.-75A>G | ENSP00000484420.1:n.-75A>G | |
| NM_001206389.1:c.-75A>G | NP_001193318.1:n.-75A>G | |
| NM_006119.4:c.151A>G | NP_006110.1:p.Ile51Val | |
| NM_033163.3:c.238A>G | NP_149353.1:p.Ile80Val | |
| NM_033164.3:c.205A>G | NP_149354.1:p.Ile69Val | |
| NM_033165.3:c.118A>G | NP_149355.1:p.Ile40Val | |
| XM_011539509.1:c.160A>G | XP_011537811.1:p.Ile54Val | |
| NM_006119.5:c.151A>G | NP_006110.1:p.Ile51Val | |
| NM_033163.4:c.238A>G | NP_149353.1:p.Ile80Val | |
| NM_033164.4:c.205A>G | NP_149354.1:p.Ile69Val | |
| NM_033165.4:c.118A>G | NP_149355.1:p.Ile40Val | |
| NM_001206389.2:c.-75A>G | NP_001193318.1:n.-75A>G | |
| NM_006119.6:c.151A>G | NP_006110.1:p.Ile51Val | |
| NM_033163.5:c.238A>G MANE Select | NP_149353.1:p.Ile80Val | |
| NM_033165.5:c.118A>G | NP_149355.1:p.Ile40Val |