Linked Data
dbSNP Id:
rs2074518
gnomAD v2:
17-33324382-C-T
gnomAD v3:
17-34997363-C-T
gnomAD v4:
17-34997363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34997363C>T , CM000679.2:g.34997363C>T | GRCh38 |
| NC_000017.10:g.33324382C>T , CM000679.1:g.33324382C>T | GRCh37 |
| NC_000017.9:g.30348495C>T | NCBI36 |
| NG_029221.1:g.21866C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378526.9:c.1824-375C>T MANE Select | ENSP00000367787.3:n.1824-375C>T | |
| ENST00000262327.9:c.1824-375C>T | ENSP00000262327.4:n.1824-375C>T | |
| ENST00000378526.8:c.1824-375C>T | ENSP00000367787.3:n.1824-375C>T | |
| ENST00000586058.1:n.458-375C>T | ||
| ENST00000590630.5:n.817-375C>T | ||
| ENST00000593099.5:n.330C>T | ||
| NM_002311.4:c.1824-375C>T | NP_002302.2:n.1824-375C>T | |
| NM_013975.3:c.1824-375C>T | NP_039269.2:n.1824-375C>T | |
| XM_005257970.2:c.1851-375C>T | XP_005258027.1:n.1851-375C>T | |
| XM_006721896.2:c.1851-375C>T | XP_006721959.1:n.1851-375C>T | |
| XM_011524797.1:c.1851-375C>T | XP_011523099.1:n.1851-375C>T | |
| XM_011524798.1:c.1824-375C>T | XP_011523100.1:n.1824-375C>T | |
| XM_011524799.1:c.1824-375C>T | XP_011523101.1:n.1824-375C>T | |
| XM_011524800.1:c.1851-375C>T | XP_011523102.1:n.1851-375C>T | |
| XM_005257970.4:c.1851-375C>T | XP_005258027.1:n.1851-375C>T | |
| XM_006721896.3:c.1851-375C>T | XP_006721959.1:n.1851-375C>T | |
| XM_017024624.1:c.1824-375C>T | XP_016880113.1:n.1824-375C>T | |
| NM_013975.4:c.1824-375C>T MANE Select | NP_039269.2:n.1824-375C>T | |
| NM_002311.5:c.1824-375C>T | NP_002302.2:n.1824-375C>T |