Linked Data
dbSNP Id:
rs997154
gnomAD v2:
14-23464482-G-A
gnomAD v3:
14-22995273-G-A
gnomAD v4:
14-22995273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22995273G>A , CM000676.2:g.22995273G>A | GRCh38 |
| NC_000014.8:g.23464482G>A , CM000676.1:g.23464482G>A | GRCh37 |
| NC_000014.7:g.22534322G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299088.11:c.918+675C>T (C14orf93) MANE Select | ENSP00000299088.6:n.918+675C>T | |
| ENST00000299088.10:c.918+675C>T (C14orf93) | ENSP00000299088.6:n.918+675C>T | |
| ENST00000341470.8:c.918+675C>T (C14orf93) | ENSP00000341353.4:n.918+675C>T | |
| ENST00000397377.5:c.378+675C>T (C14orf93) | ENSP00000380533.1:n.378+675C>T | |
| ENST00000397379.7:c.918+675C>T (C14orf93) | ENSP00000380535.3:n.918+675C>T | |
| ENST00000397382.8:c.918+675C>T (C14orf93) | ENSP00000380538.4:n.918+675C>T | |
| NM_001130706.2:c.918+675C>T (C14orf93) | NP_001124178.1:n.918+675C>T | |
| NM_001130708.2:c.918+675C>T (C14orf93) | NP_001124180.1:n.918+675C>T | |
| NM_001282968.1:c.378+675C>T (C14orf93) | NP_001269897.1:n.378+675C>T | |
| NM_001282969.1:c.378+675C>T (C14orf93) | NP_001269898.1:n.378+675C>T | |
| NM_001282970.1:c.918+675C>T (C14orf93) | NP_001269899.1:n.918+675C>T | |
| NM_021944.3:c.918+675C>T (C14orf93) | NP_068763.2:n.918+675C>T | |
| XM_005267971.1:c.918+675C>T (C14orf93) | XP_005268028.1:n.918+675C>T | |
| XM_005267972.1:c.918+675C>T (C14orf93) | XP_005268029.1:n.918+675C>T | |
| XM_005267973.2:c.918+675C>T (C14orf93) | XP_005268030.1:n.918+675C>T | |
| XM_006720230.1:c.918+675C>T (C14orf93) | XP_006720293.1:n.918+675C>T | |
| XM_006720231.1:c.378+675C>T (C14orf93) | XP_006720294.1:n.378+675C>T | |
| XM_006720232.2:c.378+675C>T (C14orf93) | XP_006720295.1:n.378+675C>T | |
| XM_011537059.1:c.918+675C>T (C14orf93) | XP_011535361.1:n.918+675C>T | |
| XM_011537060.1:c.918+675C>T (C14orf93) | XP_011535362.1:n.918+675C>T | |
| XM_011537061.1:c.918+675C>T (C14orf93) | XP_011535363.1:n.918+675C>T | |
| XM_011537062.1:c.918+675C>T (C14orf93) | XP_011535364.1:n.918+675C>T | |
| XM_005267972.2:c.918+675C>T (C14orf93) | XP_005268029.1:n.918+675C>T | |
| XM_011537060.3:c.918+675C>T (C14orf93) | XP_011535362.1:n.918+675C>T | |
| XM_011537062.2:c.918+675C>T (C14orf93) | XP_011535364.1:n.918+675C>T | |
| XM_017021570.2:c.918+675C>T (C14orf93) | XP_016877059.1:n.918+675C>T | |
| XM_017021572.2:c.918+675C>T (C14orf93) | XP_016877061.1:n.918+675C>T | |
| XM_017021573.1:c.918+675C>T (C14orf93) | XP_016877062.1:n.918+675C>T | |
| XM_017021574.2:c.918+675C>T (C14orf93) | XP_016877063.1:n.918+675C>T | |
| XM_017021575.2:c.378+675C>T (C14orf93) | XP_016877064.1:n.378+675C>T | |
| XM_017021576.1:c.378+675C>T (C14orf93) | XP_016877065.1:n.378+675C>T | |
| XM_024449685.1:c.918+675C>T (C14orf93) | XP_024305453.1:n.918+675C>T | |
| XM_024449687.1:c.918+675C>T (C14orf93) | XP_024305455.1:n.918+675C>T | |
| XR_001750639.1:n.1108-1901G>A (AJUBA-DT) | ||
| XR_001750640.1:n.1275-1901G>A (AJUBA-DT) | ||
| XR_001750642.1:n.680-1901G>A (AJUBA-DT) | ||
| XR_001750643.1:n.1106-1901G>A (AJUBA-DT) | ||
| XR_001750644.1:n.1108-2833G>A (AJUBA-DT) | ||
| XR_001750647.1:n.1108+5317G>A (AJUBA-DT) | ||
| NM_021944.4:c.918+675C>T (C14orf93) MANE Select | NP_068763.2:n.918+675C>T | |
| NM_001130706.3:c.918+675C>T (C14orf93) | NP_001124178.1:n.918+675C>T | |
| NM_001130708.3:c.918+675C>T (C14orf93) | NP_001124180.1:n.918+675C>T | |
| NM_001282968.2:c.378+675C>T (C14orf93) | NP_001269897.1:n.378+675C>T | |
| NM_001282970.2:c.918+675C>T (C14orf93) | NP_001269899.1:n.918+675C>T |