gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45494560C>T , CM000683.2:g.45494560C>T | GRCh38 |
| NC_000021.8:g.46914474C>T , CM000683.1:g.46914474C>T | GRCh37 |
| NC_000021.7:g.45738902C>T | NCBI36 |
| NG_011903.1:g.94378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2908C>T (COL18A1) | ENSP00000347665.5:p.Arg970Ter | |
| ENST00000651438.1:c.2368C>T (COL18A1) MANE Select | ENSP00000498485.1:p.Arg790Ter | |
| ENST00000342220.9:c.409C>T (COL18A1) | ENSP00000339118.5:p.Arg137Ter | |
| ENST00000355480.9:c.2908C>T (COL18A1) | ENSP00000347665.5:p.Arg970Ter | |
| ENST00000359759.8:c.3613C>T (COL18A1) | ENSP00000352798.4:p.Arg1205Ter | |
| ENST00000400337.6:c.2368C>T (COL18A1) | ENSP00000383191.2:p.Arg790Ter | |
| ENST00000417954.5:c.2584G>A (SLC19A1) | ||
| ENST00000459895.1:n.122C>T (COL18A1) | ||
| NM_030582.3:c.2908C>T (COL18A1) | NP_085059.2:p.Arg970Ter | |
| NM_130444.2:c.3613C>T (COL18A1) | NP_569711.2:p.Arg1205Ter | |
| NM_130445.3:c.2368C>T (COL18A1) | NP_569712.2:p.Arg790Ter | |
| NM_030582.4:c.2908C>T (COL18A1) | NP_085059.2:p.Arg970Ter | |
| NM_130444.3:c.3613C>T (COL18A1) | NP_569711.2:p.Arg1205Ter | |
| NM_130445.4:c.2368C>T (COL18A1) | NP_569712.2:p.Arg790Ter | |
| NM_001379500.1:c.2368C>T (COL18A1) MANE Select | NP_001366429.1:p.Arg790Ter |