Linked Data
dbSNP Id:
rs1198872
gnomAD v2:
2-10903412-C-T
gnomAD v3:
2-10763286-C-T
gnomAD v4:
2-10763286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10763286C>T , CM000664.2:g.10763286C>T | GRCh38 |
| NC_000002.11:g.10903412C>T , CM000664.1:g.10903412C>T | GRCh37 |
| NC_000002.10:g.10820863C>T | NCBI36 |
| NG_050575.1:g.47313C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272238.9:c.284-1045C>T MANE Select | ENSP00000272238.4:n.284-1045C>T | |
| ENST00000648362.1:c.284-1045C>T | ENSP00000497038.1:n.284-1045C>T | |
| ENST00000272238.8:c.284-1045C>T | ENSP00000272238.4:n.284-1045C>T | |
| ENST00000381661.3:c.284-1045C>T | ENSP00000371077.3:n.284-1045C>T | |
| ENST00000635370.1:c.314-1045C>T | ENSP00000489280.1:n.314-1045C>T | |
| NM_001039362.1:c.284-1045C>T | NP_001034451.1:n.284-1045C>T | |
| NM_144583.3:c.284-1045C>T | NP_653184.2:n.284-1045C>T | |
| XM_011510339.1:c.314-1045C>T | XP_011508641.1:n.314-1045C>T | |
| XM_011510340.1:c.314-1045C>T | XP_011508642.1:n.314-1045C>T | |
| XM_011510341.1:c.314-1045C>T | XP_011508643.1:n.314-1045C>T | |
| XR_922657.1:n.390-1045C>T | ||
| XR_922658.1:n.364-1045C>T | ||
| XR_922659.1:n.362-1045C>T | ||
| XR_922660.1:n.504-1045C>T | ||
| XR_922661.1:n.390-1045C>T | ||
| XR_922662.1:n.386-1045C>T | ||
| XR_922663.1:n.286-1045C>T | ||
| XR_922664.1:n.94-1045C>T | ||
| XM_011510339.3:c.314-1045C>T | XP_011508641.1:n.314-1045C>T | |
| XM_011510340.3:c.314-1045C>T | XP_011508642.1:n.314-1045C>T | |
| XM_011510341.2:c.314-1045C>T | XP_011508643.1:n.314-1045C>T | |
| XM_017003745.2:c.284-1045C>T | XP_016859234.1:n.284-1045C>T | |
| XR_922657.3:n.390-1045C>T | ||
| XR_922658.3:n.365-1045C>T | ||
| XR_922662.3:n.386-1045C>T | ||
| XR_922663.3:n.286-1045C>T | ||
| XR_922664.3:n.83-1045C>T | ||
| NM_001039362.2:c.284-1045C>T MANE Select | NP_001034451.1:n.284-1045C>T | |
| NM_144583.4:c.284-1045C>T | NP_653184.2:n.284-1045C>T |