Linked Data
dbSNP Id:
rs943491304
gnomAD v2:
21-46924435-G-T
gnomAD v4:
21-45504521-G-T
MyVariant Identifiers:
chr21:g.46924435G>T (hg19)
chr21:g.46924435_46924442delinsTGCCCCCC (hg19)
chr21:g.45504521G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45504521G>T , CM000683.2:g.45504521G>T | GRCh38 |
| NC_000021.8:g.46924435G>T , CM000683.1:g.46924435G>T | GRCh37 |
| NC_000021.7:g.45748863G>T | NCBI36 |
| NG_011903.1:g.104330G>T | |
| NG_028278.2:g.63623C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3373G>T (COL18A1) | ENSP00000347665.5:p.Gly1125Cys | |
| ENST00000651438.1:c.2833G>T (COL18A1) MANE Select | ENSP00000498485.1:p.Gly945Cys | |
| ENST00000342220.9:c.874G>T (COL18A1) | ENSP00000339118.5:p.Gly292Cys | |
| ENST00000355480.9:c.3373G>T (COL18A1) | ENSP00000347665.5:p.Gly1125Cys | |
| ENST00000359759.8:c.4078G>T (COL18A1) | ENSP00000352798.4:p.Gly1360Cys | |
| ENST00000400337.6:c.2833G>T (COL18A1) | ENSP00000383191.2:p.Gly945Cys | |
| ENST00000417954.5:c.498-5909C>A (SLC19A1) | ||
| ENST00000567670.5:c.1294-5909C>A (SLC19A1) | ENSP00000457278.1:n.1294-5909C>A | |
| NM_030582.3:c.3373G>T (COL18A1) | NP_085059.2:p.Gly1125Cys | |
| NM_130444.2:c.4078G>T (COL18A1) | NP_569711.2:p.Gly1360Cys | |
| NM_130445.3:c.2833G>T (COL18A1) | NP_569712.2:p.Gly945Cys | |
| XM_011529707.1:c.1585-1552C>A (SLC19A1) | XP_011528009.1:n.1585-1552C>A | |
| XM_017028445.2:c.1585-1552C>A (SLC19A1) | XP_016883934.1:n.1585-1552C>A | |
| NM_030582.4:c.3373G>T (COL18A1) | NP_085059.2:p.Gly1125Cys | |
| NM_130444.3:c.4078G>T (COL18A1) | NP_569711.2:p.Gly1360Cys | |
| NM_130445.4:c.2833G>T (COL18A1) | NP_569712.2:p.Gly945Cys | |
| NM_001379500.1:c.2833G>T (COL18A1) MANE Select | NP_001366429.1:p.Gly945Cys |