Linked Data
dbSNP Id:
rs1198871
gnomAD v2:
2-10903349-A-G
gnomAD v3:
2-10763223-A-G
gnomAD v4:
2-10763223-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10763223A>G , CM000664.2:g.10763223A>G | GRCh38 |
| NC_000002.11:g.10903349A>G , CM000664.1:g.10903349A>G | GRCh37 |
| NC_000002.10:g.10820800A>G | NCBI36 |
| NG_050575.1:g.47250A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272238.9:c.284-1108A>G MANE Select | ENSP00000272238.4:n.284-1108A>G | |
| ENST00000648362.1:c.284-1108A>G | ENSP00000497038.1:n.284-1108A>G | |
| ENST00000272238.8:c.284-1108A>G | ENSP00000272238.4:n.284-1108A>G | |
| ENST00000381661.3:c.284-1108A>G | ENSP00000371077.3:n.284-1108A>G | |
| ENST00000635370.1:c.314-1108A>G | ENSP00000489280.1:n.314-1108A>G | |
| NM_001039362.1:c.284-1108A>G | NP_001034451.1:n.284-1108A>G | |
| NM_144583.3:c.284-1108A>G | NP_653184.2:n.284-1108A>G | |
| XM_011510339.1:c.314-1108A>G | XP_011508641.1:n.314-1108A>G | |
| XM_011510340.1:c.314-1108A>G | XP_011508642.1:n.314-1108A>G | |
| XM_011510341.1:c.314-1108A>G | XP_011508643.1:n.314-1108A>G | |
| XR_922657.1:n.390-1108A>G | ||
| XR_922658.1:n.364-1108A>G | ||
| XR_922659.1:n.362-1108A>G | ||
| XR_922660.1:n.504-1108A>G | ||
| XR_922661.1:n.390-1108A>G | ||
| XR_922662.1:n.386-1108A>G | ||
| XR_922663.1:n.286-1108A>G | ||
| XR_922664.1:n.94-1108A>G | ||
| XM_011510339.3:c.314-1108A>G | XP_011508641.1:n.314-1108A>G | |
| XM_011510340.3:c.314-1108A>G | XP_011508642.1:n.314-1108A>G | |
| XM_011510341.2:c.314-1108A>G | XP_011508643.1:n.314-1108A>G | |
| XM_017003745.2:c.284-1108A>G | XP_016859234.1:n.284-1108A>G | |
| XR_922657.3:n.390-1108A>G | ||
| XR_922658.3:n.365-1108A>G | ||
| XR_922662.3:n.386-1108A>G | ||
| XR_922663.3:n.286-1108A>G | ||
| XR_922664.3:n.83-1108A>G | ||
| NM_001039362.2:c.284-1108A>G MANE Select | NP_001034451.1:n.284-1108A>G | |
| NM_144583.4:c.284-1108A>G | NP_653184.2:n.284-1108A>G |