Linked Data
ClinVar Variation Id:
340249
dbSNP Id:
rs201057172
ExAC:
21:46916952 C / T
gnomAD v2:
21-46916952-C-T
gnomAD v3:
21-45497038-C-T
gnomAD v4:
21-45497038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45497038C>T , CM000683.2:g.45497038C>T | GRCh38 |
| NC_000021.8:g.46916952C>T , CM000683.1:g.46916952C>T | GRCh37 |
| NC_000021.7:g.45741380C>T | NCBI36 |
| NG_011903.1:g.96856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3118-12C>T (COL18A1) | ENSP00000347665.5:n.3118-12C>T | |
| ENST00000651438.1:c.2578-12C>T (COL18A1) MANE Select | ENSP00000498485.1:n.2578-12C>T | |
| ENST00000342220.9:c.619-12C>T (COL18A1) | ENSP00000339118.5:n.619-12C>T | |
| ENST00000355480.9:c.3118-12C>T (COL18A1) | ENSP00000347665.5:n.3118-12C>T | |
| ENST00000359759.8:c.3823-12C>T (COL18A1) | ENSP00000352798.4:n.3823-12C>T | |
| ENST00000400337.6:c.2578-12C>T (COL18A1) | ENSP00000383191.2:n.2578-12C>T | |
| ENST00000417954.5:c.765-659G>A (SLC19A1) | ||
| ENST00000459895.1:n.332-12C>T (COL18A1) | ||
| NM_030582.3:c.3118-12C>T (COL18A1) | NP_085059.2:n.3118-12C>T | |
| NM_130444.2:c.3823-12C>T (COL18A1) | NP_569711.2:n.3823-12C>T | |
| NM_130445.3:c.2578-12C>T (COL18A1) | NP_569712.2:n.2578-12C>T | |
| NM_030582.4:c.3118-12C>T (COL18A1) | NP_085059.2:n.3118-12C>T | |
| NM_130444.3:c.3823-12C>T (COL18A1) | NP_569711.2:n.3823-12C>T | |
| NM_130445.4:c.2578-12C>T (COL18A1) | NP_569712.2:n.2578-12C>T | |
| NM_001379500.1:c.2578-12C>T (COL18A1) MANE Select | NP_001366429.1:n.2578-12C>T |