Linked Data
ClinVar Variation Id:
1420795
ClinVar RCV Id:
RCV001916611
dbSNP Id:
rs1395788254
gnomAD v2:
21-46925061-A-G
gnomAD v4:
21-45505147-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45505147A>G , CM000683.2:g.45505147A>G | GRCh38 |
| NC_000021.8:g.46925061A>G , CM000683.1:g.46925061A>G | GRCh37 |
| NC_000021.7:g.45749489A>G | NCBI36 |
| NG_011903.1:g.104956A>G | |
| NG_028278.2:g.62997T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3422A>G (COL18A1) | ENSP00000347665.5:p.Glu1141Gly | |
| ENST00000651438.1:c.2882A>G (COL18A1) MANE Select | ENSP00000498485.1:p.Glu961Gly | |
| ENST00000342220.9:c.923A>G (COL18A1) | ENSP00000339118.5:p.Glu308Gly | |
| ENST00000355480.9:c.3422A>G (COL18A1) | ENSP00000347665.5:p.Glu1141Gly | |
| ENST00000359759.8:c.4127A>G (COL18A1) | ENSP00000352798.4:p.Glu1376Gly | |
| ENST00000400337.6:c.2882A>G (COL18A1) | ENSP00000383191.2:p.Glu961Gly | |
| ENST00000417954.5:c.498-6535T>C (SLC19A1) | ||
| ENST00000567670.5:c.1294-6535T>C (SLC19A1) | ENSP00000457278.1:n.1294-6535T>C | |
| NM_030582.3:c.3413A>G (COL18A1) | NP_085059.2:p.Glu1138Gly | |
| NM_130444.2:c.4118A>G (COL18A1) | NP_569711.2:p.Glu1373Gly | |
| NM_130445.3:c.2873A>G (COL18A1) | NP_569712.2:p.Glu958Gly | |
| XM_011529707.1:c.1585-2178T>C (SLC19A1) | XP_011528009.1:n.1585-2178T>C | |
| XM_017028445.2:c.1585-2178T>C (SLC19A1) | XP_016883934.1:n.1585-2178T>C | |
| NM_030582.4:c.3413A>G (COL18A1) | NP_085059.2:p.Glu1138Gly | |
| NM_130444.3:c.4118A>G (COL18A1) | NP_569711.2:p.Glu1373Gly | |
| NM_130445.4:c.2873A>G (COL18A1) | NP_569712.2:p.Glu958Gly | |
| NM_001379500.1:c.2882A>G (COL18A1) MANE Select | NP_001366429.1:p.Glu961Gly |