Linked Data
dbSNP Id:
rs375477942
ExAC:
5:176520193 T / G
gnomAD v2:
5-176520193-T-G
gnomAD v3:
5-177093192-T-G
gnomAD v4:
5-177093192-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177093192T>G , CM000667.2:g.177093192T>G | GRCh38 |
| NC_000005.9:g.176520193T>G , CM000667.1:g.176520193T>G | GRCh37 |
| NC_000005.8:g.176452799T>G | NCBI36 |
| NG_012067.1:g.11273T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1112T>G MANE Select | ENSP00000292408.4:p.Ile371Ser | |
| ENST00000292408.8:c.1112T>G | ENSP00000292408.4:p.Ile371Ser | |
| ENST00000393637.5:c.1058-140T>G | ENSP00000377254.1:n.1058-140T>G | |
| ENST00000393648.6:c.1097+15T>G | ENSP00000377259.2:n.1097+15T>G | |
| ENST00000502906.5:c.1112T>G | ENSP00000424960.1:p.Ile371Ser | |
| ENST00000508139.1:n.416T>G | ||
| ENST00000511076.1:c.18T>G | ||
| NM_001291980.1:c.1097+15T>G | NP_001278909.1:n.1097+15T>G | |
| NM_002011.4:c.1112T>G | NP_002002.3:p.Ile371Ser | |
| NM_022963.3:c.1058-140T>G | NP_075252.2:n.1058-140T>G | |
| NM_213647.2:c.1112T>G | NP_998812.1:p.Ile371Ser | |
| XM_005265838.2:c.1112T>G | XP_005265895.1:p.Ile371Ser | |
| XM_011534464.1:c.1205T>G | XP_011532766.1:p.Ile402Ser | |
| XM_011534465.1:c.794T>G | XP_011532767.1:p.Ile265Ser | |
| XR_941090.1:n.1157T>G | ||
| NM_001354984.1:c.1112T>G | NP_001341913.1:p.Ile371Ser | |
| NM_213647.3:c.1112T>G MANE Select | NP_998812.1:p.Ile371Ser | |
| NM_001291980.2:c.1097+15T>G | NP_001278909.1:n.1097+15T>G | |
| NM_001354984.2:c.1112T>G | NP_001341913.1:p.Ile371Ser | |
| NM_002011.5:c.1112T>G | NP_002002.3:p.Ile371Ser |