Linked Data
ClinVar Variation Id:
340270
dbSNP Id:
rs750065884
ExAC:
21:46930164 G / A
gnomAD v2:
21-46930164-G-A
gnomAD v3:
21-45510250-G-A
gnomAD v4:
21-45510250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45510250G>A , CM000683.2:g.45510250G>A | GRCh38 |
| NC_000021.8:g.46930164G>A , CM000683.1:g.46930164G>A | GRCh37 |
| NC_000021.7:g.45754592G>A | NCBI36 |
| NG_011903.1:g.110059G>A | |
| NG_028278.2:g.57894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4222G>A (COL18A1) | ENSP00000347665.5:p.Val1408Ile | |
| ENST00000651438.1:c.3682G>A (COL18A1) MANE Select | ENSP00000498485.1:p.Val1228Ile | |
| ENST00000342220.9:c.1726G>A (COL18A1) | ENSP00000339118.5:p.Val576Ile | |
| ENST00000355480.9:c.4222G>A (COL18A1) | ENSP00000347665.5:p.Val1408Ile | |
| ENST00000359759.8:c.4927G>A (COL18A1) | ENSP00000352798.4:p.Val1643Ile | |
| ENST00000400337.6:c.3682G>A (COL18A1) | ENSP00000383191.2:p.Val1228Ile | |
| ENST00000417954.5:c.498-11638C>T (SLC19A1) | ||
| ENST00000423214.1:c.636G>A (COL18A1) | ||
| ENST00000473212.1:n.2008G>A (COL18A1) | ||
| ENST00000567670.5:c.1294-11638C>T (SLC19A1) | ENSP00000457278.1:n.1294-11638C>T | |
| NM_030582.3:c.4213G>A (COL18A1) | NP_085059.2:p.Val1405Ile | |
| NM_130444.2:c.4918G>A (COL18A1) | NP_569711.2:p.Val1640Ile | |
| NM_130445.3:c.3673G>A (COL18A1) | NP_569712.2:p.Val1225Ile | |
| XM_011529707.1:c.1585-7281C>T (SLC19A1) | XP_011528009.1:n.1585-7281C>T | |
| XM_017028445.2:c.1585-7281C>T (SLC19A1) | XP_016883934.1:n.1585-7281C>T | |
| NM_030582.4:c.4213G>A (COL18A1) | NP_085059.2:p.Val1405Ile | |
| NM_130444.3:c.4918G>A (COL18A1) | NP_569711.2:p.Val1640Ile | |
| NM_130445.4:c.3673G>A (COL18A1) | NP_569712.2:p.Val1225Ile | |
| NM_001379500.1:c.3682G>A (COL18A1) MANE Select | NP_001366429.1:p.Val1228Ile |