COSMIC:
COSN20053678 (not active)
COSN20124190 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59145775 (EAS)
Genomes Max Group AF
0.55545598 (EAS)
Exomes Max Group AF
0.59429295 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45512414G>A , CM000683.2:g.45512414G>A | GRCh38 |
| NC_000021.8:g.46932328G>A , CM000683.1:g.46932328G>A | GRCh37 |
| NC_000021.7:g.45756756G>A | NCBI36 |
| NG_011903.1:g.112223G>A | |
| NG_028278.2:g.55730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.*16G>A (COL18A1) | ENSP00000347665.5:n.*16G>A | |
| ENST00000651438.1:c.*16G>A (COL18A1) MANE Select | ENSP00000498485.1:n.*16G>A | |
| ENST00000342220.9:c.2080G>A (COL18A1) | ENSP00000339118.5:n.2080G>A | |
| ENST00000355480.9:c.*16G>A (COL18A1) | ENSP00000347665.5:n.*16G>A | |
| ENST00000359759.8:c.5281G>A (COL18A1) | ENSP00000352798.4:n.5281G>A | |
| ENST00000400337.6:c.*16G>A (COL18A1) | ENSP00000383191.2:n.*16G>A | |
| ENST00000417954.5:c.497+13403C>T (SLC19A1) | ||
| ENST00000468508.1:n.1383C>T (SLC19A1) | ||
| ENST00000473212.1:n.2362G>A (COL18A1) | ||
| ENST00000567670.5:c.1293+13403C>T (SLC19A1) | ENSP00000457278.1:n.1293+13403C>T | |
| NM_030582.3:c.*16G>A (COL18A1) | NP_085059.2:n.*16G>A | |
| NM_130444.2:c.*16G>A (COL18A1) | NP_569711.2:n.*16G>A | |
| NM_130445.3:c.*16G>A (COL18A1) | NP_569712.2:n.*16G>A | |
| XM_011529707.1:c.1585-9445C>T (SLC19A1) | XP_011528009.1:n.1585-9445C>T | |
| XM_017028445.2:c.1585-9445C>T (SLC19A1) | XP_016883934.1:n.1585-9445C>T | |
| NM_030582.4:c.*16G>A (COL18A1) | NP_085059.2:n.*16G>A | |
| NM_130444.3:c.*16G>A (COL18A1) | NP_569711.2:n.*16G>A | |
| NM_130445.4:c.*16G>A (COL18A1) | NP_569712.2:n.*16G>A | |
| NM_001379500.1:c.*16G>A (COL18A1) MANE Select | NP_001366429.1:n.*16G>A |