Linked Data
dbSNP Id:
rs778554912
ExAC:
21:46924350 T / C
gnomAD v2:
21-46924350-T-C
gnomAD v4:
21-45504436-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504436T>C , CM000683.2:g.45504436T>C | GRCh38 |
| NC_000021.8:g.46924350T>C , CM000683.1:g.46924350T>C | GRCh37 |
| NC_000021.7:g.45748778T>C | NCBI36 |
| NG_011903.1:g.104254T>C | |
| NG_028278.2:g.63708A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355480.10:c.3288T>C (COL18A1) | ENSP00000347665.5:p.Gly1096= | |
| ENST00000651438.1:c.2748T>C (COL18A1) MANE Select | ENSP00000498485.1:p.Gly916= | |
| ENST00000342220.9:c.789T>C (COL18A1) | ENSP00000339118.5:p.Gly263= | |
| ENST00000355480.9:c.3288T>C (COL18A1) | ENSP00000347665.5:p.Gly1096= | |
| ENST00000359759.8:c.3993T>C (COL18A1) | ENSP00000352798.4:p.Gly1331= | |
| ENST00000400337.6:c.2748T>C (COL18A1) | ENSP00000383191.2:p.Gly916= | |
| ENST00000417954.5:c.498-5824A>G (SLC19A1) | ||
| ENST00000567670.5:c.1294-5824A>G (SLC19A1) | ENSP00000457278.1:n.1294-5824A>G | |
| NM_030582.3:c.3288T>C (COL18A1) | NP_085059.2:p.Gly1096= | |
| NM_130444.2:c.3993T>C (COL18A1) | NP_569711.2:p.Gly1331= | |
| NM_130445.3:c.2748T>C (COL18A1) | NP_569712.2:p.Gly916= | |
| XM_011529707.1:c.1585-1467A>G (SLC19A1) | XP_011528009.1:n.1585-1467A>G | |
| XM_017028445.2:c.1585-1467A>G (SLC19A1) | XP_016883934.1:n.1585-1467A>G | |
| NM_030582.4:c.3288T>C (COL18A1) | NP_085059.2:p.Gly1096= | |
| NM_130444.3:c.3993T>C (COL18A1) | NP_569711.2:p.Gly1331= | |
| NM_130445.4:c.2748T>C (COL18A1) | NP_569712.2:p.Gly916= | |
| NM_001379500.1:c.2748T>C (COL18A1) MANE Select | NP_001366429.1:p.Gly916= |