Linked Data
dbSNP Id:
rs767919104
ExAC:
10:103531226 G / C
gnomAD v2:
10-103531226-G-C
gnomAD v4:
10-101771469-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101771469G>C , CM000672.2:g.101771469G>C | GRCh38 |
| NC_000010.10:g.103531226G>C , CM000672.1:g.103531226G>C | GRCh37 |
| NC_000010.9:g.103521216G>C | NCBI36 |
| NG_007151.1:g.9602C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.438C>G MANE Select | ENSP00000321797.2:p.Ile146Met | |
| ENST00000618991.5:c.126C>G | ENSP00000484420.1:p.Ile42Met | |
| ENST00000344255.8:c.405C>G | ENSP00000340039.3:p.Ile135Met | |
| ENST00000320185.6:c.438C>G | ENSP00000321797.2:p.Ile146Met | |
| ENST00000344255.7:c.405C>G | ENSP00000340039.3:p.Ile135Met | |
| ENST00000346714.7:c.318C>G | ENSP00000344306.3:p.Ile106Met | |
| ENST00000347978.2:c.351C>G | ENSP00000321945.2:p.Ile117Met | |
| ENST00000469792.6:c.*402C>G | ENSP00000473299.1:n.*402C>G | |
| ENST00000485728.1:n.314C>G | ||
| ENST00000618991.4:c.126C>G | ENSP00000484420.1:p.Ile42Met | |
| NM_001206389.1:c.126C>G | NP_001193318.1:p.Ile42Met | |
| NM_006119.4:c.351C>G | NP_006110.1:p.Ile117Met | |
| NM_033163.3:c.438C>G | NP_149353.1:p.Ile146Met | |
| NM_033164.3:c.405C>G | NP_149354.1:p.Ile135Met | |
| NM_033165.3:c.318C>G | NP_149355.1:p.Ile106Met | |
| XM_011539509.1:c.360C>G | XP_011537811.1:p.Ile120Met | |
| XR_946251.1:n.278-28G>C | ||
| XR_946252.1:n.209-28G>C | ||
| XR_946253.1:n.207-28G>C | ||
| XR_946252.2:n.299-28G>C | ||
| XR_946253.2:n.297-28G>C | ||
| NM_006119.5:c.351C>G | NP_006110.1:p.Ile117Met | |
| NM_033163.4:c.438C>G | NP_149353.1:p.Ile146Met | |
| NM_033164.4:c.405C>G | NP_149354.1:p.Ile135Met | |
| NM_033165.4:c.318C>G | NP_149355.1:p.Ile106Met | |
| NM_001206389.2:c.126C>G | NP_001193318.1:p.Ile42Met | |
| NM_006119.6:c.351C>G | NP_006110.1:p.Ile117Met | |
| NM_033163.5:c.438C>G MANE Select | NP_149353.1:p.Ile146Met | |
| NM_033165.5:c.318C>G | NP_149355.1:p.Ile106Met |