Linked Data
ClinVar Variation Id:
1981443
ClinVar RCV Id:
RCV002785227
dbSNP Id:
rs757492242
ExAC:
21:46931028 G / A
gnomAD v2:
21-46931028-G-A
gnomAD v4:
21-45511114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45511114G>A , CM000683.2:g.45511114G>A | GRCh38 |
| NC_000021.8:g.46931028G>A , CM000683.1:g.46931028G>A | GRCh37 |
| NC_000021.7:g.45755456G>A | NCBI36 |
| NG_011903.1:g.110923G>A | |
| NG_028278.2:g.57030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4237G>A (COL18A1) | ENSP00000347665.5:p.Glu1413Lys | |
| ENST00000651438.1:c.3697G>A (COL18A1) MANE Select | ENSP00000498485.1:p.Glu1233Lys | |
| ENST00000342220.9:c.1741G>A (COL18A1) | ENSP00000339118.5:p.Glu581Lys | |
| ENST00000355480.9:c.4237G>A (COL18A1) | ENSP00000347665.5:p.Glu1413Lys | |
| ENST00000359759.8:c.4942G>A (COL18A1) | ENSP00000352798.4:p.Glu1648Lys | |
| ENST00000400337.6:c.3697G>A (COL18A1) | ENSP00000383191.2:p.Glu1233Lys | |
| ENST00000417954.5:c.498-12502C>T (SLC19A1) | ||
| ENST00000423214.1:c.651G>A (COL18A1) | ||
| ENST00000473212.1:n.2023G>A (COL18A1) | ||
| ENST00000567670.5:c.1294-12502C>T (SLC19A1) | ENSP00000457278.1:n.1294-12502C>T | |
| NM_030582.3:c.4228G>A (COL18A1) | NP_085059.2:p.Glu1410Lys | |
| NM_130444.2:c.4933G>A (COL18A1) | NP_569711.2:p.Glu1645Lys | |
| NM_130445.3:c.3688G>A (COL18A1) | NP_569712.2:p.Glu1230Lys | |
| XM_011529707.1:c.1585-8145C>T (SLC19A1) | XP_011528009.1:n.1585-8145C>T | |
| XM_017028445.2:c.1585-8145C>T (SLC19A1) | XP_016883934.1:n.1585-8145C>T | |
| NM_030582.4:c.4228G>A (COL18A1) | NP_085059.2:p.Glu1410Lys | |
| NM_130444.3:c.4933G>A (COL18A1) | NP_569711.2:p.Glu1645Lys | |
| NM_130445.4:c.3688G>A (COL18A1) | NP_569712.2:p.Glu1230Lys | |
| NM_001379500.1:c.3697G>A (COL18A1) MANE Select | NP_001366429.1:p.Glu1233Lys |