Linked Data
ClinVar Variation Id:
1425645
ClinVar RCV Id:
RCV001957459
dbSNP Id:
rs202104330
ExAC:
21:46931121 G / A
gnomAD v2:
21-46931121-G-A
gnomAD v3:
21-45511207-G-A
gnomAD v4:
21-45511207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45511207G>A , CM000683.2:g.45511207G>A | GRCh38 |
| NC_000021.8:g.46931121G>A , CM000683.1:g.46931121G>A | GRCh37 |
| NC_000021.7:g.45755549G>A | NCBI36 |
| NG_011903.1:g.111016G>A | |
| NG_028278.2:g.56937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4330G>A (COL18A1) | ENSP00000347665.5:p.Val1444Ile | |
| ENST00000651438.1:c.3790G>A (COL18A1) MANE Select | ENSP00000498485.1:p.Val1264Ile | |
| ENST00000342220.9:c.1834G>A (COL18A1) | ENSP00000339118.5:p.Val612Ile | |
| ENST00000355480.9:c.4330G>A (COL18A1) | ENSP00000347665.5:p.Val1444Ile | |
| ENST00000359759.8:c.5035G>A (COL18A1) | ENSP00000352798.4:p.Val1679Ile | |
| ENST00000400337.6:c.3790G>A (COL18A1) | ENSP00000383191.2:p.Val1264Ile | |
| ENST00000417954.5:c.498-12595C>T (SLC19A1) | ||
| ENST00000423214.1:c.744G>A (COL18A1) | ||
| ENST00000473212.1:n.2116G>A (COL18A1) | ||
| ENST00000567670.5:c.1294-12595C>T (SLC19A1) | ENSP00000457278.1:n.1294-12595C>T | |
| NM_030582.3:c.4321G>A (COL18A1) | NP_085059.2:p.Val1441Ile | |
| NM_130444.2:c.5026G>A (COL18A1) | NP_569711.2:p.Val1676Ile | |
| NM_130445.3:c.3781G>A (COL18A1) | NP_569712.2:p.Val1261Ile | |
| XM_011529707.1:c.1585-8238C>T (SLC19A1) | XP_011528009.1:n.1585-8238C>T | |
| XM_017028445.2:c.1585-8238C>T (SLC19A1) | XP_016883934.1:n.1585-8238C>T | |
| NM_030582.4:c.4321G>A (COL18A1) | NP_085059.2:p.Val1441Ile | |
| NM_130444.3:c.5026G>A (COL18A1) | NP_569711.2:p.Val1676Ile | |
| NM_130445.4:c.3781G>A (COL18A1) | NP_569712.2:p.Val1261Ile | |
| NM_001379500.1:c.3790G>A (COL18A1) MANE Select | NP_001366429.1:p.Val1264Ile |