Linked Data
ClinVar Variation Id:
1605808
ClinVar RCV Id:
RCV002151982
dbSNP Id:
rs780143332
ExAC:
21:46931120 C / T
gnomAD v2:
21-46931120-C-T
gnomAD v3:
21-45511206-C-T
gnomAD v4:
21-45511206-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45511206C>T , CM000683.2:g.45511206C>T | GRCh38 |
| NC_000021.8:g.46931120C>T , CM000683.1:g.46931120C>T | GRCh37 |
| NC_000021.7:g.45755548C>T | NCBI36 |
| NG_011903.1:g.111015C>T | |
| NG_028278.2:g.56938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4329C>T (COL18A1) | ENSP00000347665.5:p.Asp1443= | |
| ENST00000651438.1:c.3789C>T (COL18A1) MANE Select | ENSP00000498485.1:p.Asp1263= | |
| ENST00000342220.9:c.1833C>T (COL18A1) | ENSP00000339118.5:p.Asp611= | |
| ENST00000355480.9:c.4329C>T (COL18A1) | ENSP00000347665.5:p.Asp1443= | |
| ENST00000359759.8:c.5034C>T (COL18A1) | ENSP00000352798.4:p.Asp1678= | |
| ENST00000400337.6:c.3789C>T (COL18A1) | ENSP00000383191.2:p.Asp1263= | |
| ENST00000417954.5:c.498-12594G>A (SLC19A1) | ||
| ENST00000423214.1:c.743C>T (COL18A1) | ||
| ENST00000473212.1:n.2115C>T (COL18A1) | ||
| ENST00000567670.5:c.1294-12594G>A (SLC19A1) | ENSP00000457278.1:n.1294-12594G>A | |
| NM_030582.3:c.4320C>T (COL18A1) | NP_085059.2:p.Asp1440= | |
| NM_130444.2:c.5025C>T (COL18A1) | NP_569711.2:p.Asp1675= | |
| NM_130445.3:c.3780C>T (COL18A1) | NP_569712.2:p.Asp1260= | |
| XM_011529707.1:c.1585-8237G>A (SLC19A1) | XP_011528009.1:n.1585-8237G>A | |
| XM_017028445.2:c.1585-8237G>A (SLC19A1) | XP_016883934.1:n.1585-8237G>A | |
| NM_030582.4:c.4320C>T (COL18A1) | NP_085059.2:p.Asp1440= | |
| NM_130444.3:c.5025C>T (COL18A1) | NP_569711.2:p.Asp1675= | |
| NM_130445.4:c.3780C>T (COL18A1) | NP_569712.2:p.Asp1260= | |
| NM_001379500.1:c.3789C>T (COL18A1) MANE Select | NP_001366429.1:p.Asp1263= |