Linked Data
ClinVar Variation Id:
1218124
dbSNP Id:
rs371106773
ExAC:
21:46925069 C / T
gnomAD v2:
21-46925069-C-T
gnomAD v3:
21-45505155-C-T
gnomAD v4:
21-45505155-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45505155C>T , CM000683.2:g.45505155C>T | GRCh38 |
| NC_000021.8:g.46925069C>T , CM000683.1:g.46925069C>T | GRCh37 |
| NC_000021.7:g.45749497C>T | NCBI36 |
| NG_011903.1:g.104964C>T | |
| NG_028278.2:g.62989G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3430C>T (COL18A1) | ENSP00000347665.5:p.Arg1144Trp | |
| ENST00000651438.1:c.2890C>T (COL18A1) MANE Select | ENSP00000498485.1:p.Arg964Trp | |
| ENST00000342220.9:c.931C>T (COL18A1) | ENSP00000339118.5:p.Arg311Trp | |
| ENST00000355480.9:c.3430C>T (COL18A1) | ENSP00000347665.5:p.Arg1144Trp | |
| ENST00000359759.8:c.4135C>T (COL18A1) | ENSP00000352798.4:p.Arg1379Trp | |
| ENST00000400337.6:c.2890C>T (COL18A1) | ENSP00000383191.2:p.Arg964Trp | |
| ENST00000417954.5:c.498-6543G>A (SLC19A1) | ||
| ENST00000567670.5:c.1294-6543G>A (SLC19A1) | ENSP00000457278.1:n.1294-6543G>A | |
| NM_030582.3:c.3421C>T (COL18A1) | NP_085059.2:p.Arg1141Trp | |
| NM_130444.2:c.4126C>T (COL18A1) | NP_569711.2:p.Arg1376Trp | |
| NM_130445.3:c.2881C>T (COL18A1) | NP_569712.2:p.Arg961Trp | |
| XM_011529707.1:c.1585-2186G>A (SLC19A1) | XP_011528009.1:n.1585-2186G>A | |
| XM_017028445.2:c.1585-2186G>A (SLC19A1) | XP_016883934.1:n.1585-2186G>A | |
| NM_030582.4:c.3421C>T (COL18A1) | NP_085059.2:p.Arg1141Trp | |
| NM_130444.3:c.4126C>T (COL18A1) | NP_569711.2:p.Arg1376Trp | |
| NM_130445.4:c.2881C>T (COL18A1) | NP_569712.2:p.Arg961Trp | |
| NM_001379500.1:c.2890C>T (COL18A1) MANE Select | NP_001366429.1:p.Arg964Trp |