Linked Data
dbSNP Id:
rs750111114
ExAC:
12:132426080 T / G
gnomAD v2:
12-132426080-T-G
gnomAD v3:
12-131941535-T-G
gnomAD v4:
12-131941535-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941535T>G , CM000674.2:g.131941535T>G | GRCh38 |
| NC_000012.11:g.132426080T>G , CM000674.1:g.132426080T>G | GRCh37 |
| NC_000012.10:g.130992033T>G | NCBI36 |
| NG_013039.1:g.17336T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.788T>G MANE Select | ENSP00000365837.3:p.Ile263Ser | |
| ENST00000322060.9:c.704T>G | ENSP00000324726.5:p.Ile235Ser | |
| ENST00000376649.7:c.788T>G | ENSP00000365837.3:p.Ile263Ser | |
| ENST00000443358.6:c.704T>G | ENSP00000392451.2:p.Ile235Ser | |
| ENST00000535067.5:c.358-2004T>G | ENSP00000443969.1:n.358-2004T>G | |
| ENST00000542167.2:c.629T>G | ENSP00000438948.1:p.Ile210Ser | |
| ENST00000543754.1:n.609T>G | ||
| NM_001002019.2:c.704T>G | NP_001002019.1:p.Ile235Ser | |
| NM_001002020.2:c.704T>G | NP_001002020.1:p.Ile235Ser | |
| NM_025215.5:c.788T>G | NP_079491.2:p.Ile263Ser | |
| XM_011538768.1:c.389T>G | XP_011537070.1:p.Ile130Ser | |
| XM_011538768.3:c.389T>G | XP_011537070.1:p.Ile130Ser | |
| XR_001748872.1:n.1243T>G | ||
| NM_001002019.3:c.704T>G | NP_001002019.1:p.Ile235Ser | |
| NM_001002020.3:c.704T>G | NP_001002020.1:p.Ile235Ser | |
| NM_025215.6:c.788T>G MANE Select | NP_079491.2:p.Ile263Ser |