Linked Data
ClinVar Variation Id:
340247
dbSNP Id:
rs369390092
ExAC:
21:46915316 G / A
gnomAD v2:
21-46915316-G-A
gnomAD v3:
21-45495402-G-A
gnomAD v4:
21-45495402-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45495402G>A , CM000683.2:g.45495402G>A | GRCh38 |
| NC_000021.8:g.46915316G>A , CM000683.1:g.46915316G>A | GRCh37 |
| NC_000021.7:g.45739744G>A | NCBI36 |
| NG_011903.1:g.95220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3018G>A (COL18A1) | ENSP00000347665.5:p.Pro1006= | |
| ENST00000651438.1:c.2478G>A (COL18A1) MANE Select | ENSP00000498485.1:p.Pro826= | |
| ENST00000342220.9:c.519G>A (COL18A1) | ENSP00000339118.5:p.Pro173= | |
| ENST00000355480.9:c.3018G>A (COL18A1) | ENSP00000347665.5:p.Pro1006= | |
| ENST00000359759.8:c.3723G>A (COL18A1) | ENSP00000352798.4:p.Pro1241= | |
| ENST00000400337.6:c.2478G>A (COL18A1) | ENSP00000383191.2:p.Pro826= | |
| ENST00000417954.5:c.1742C>T (SLC19A1) | ||
| ENST00000459895.1:n.232G>A (COL18A1) | ||
| NM_030582.3:c.3018G>A (COL18A1) | NP_085059.2:p.Pro1006= | |
| NM_130444.2:c.3723G>A (COL18A1) | NP_569711.2:p.Pro1241= | |
| NM_130445.3:c.2478G>A (COL18A1) | NP_569712.2:p.Pro826= | |
| NM_030582.4:c.3018G>A (COL18A1) | NP_085059.2:p.Pro1006= | |
| NM_130444.3:c.3723G>A (COL18A1) | NP_569711.2:p.Pro1241= | |
| NM_130445.4:c.2478G>A (COL18A1) | NP_569712.2:p.Pro826= | |
| NM_001379500.1:c.2478G>A (COL18A1) MANE Select | NP_001366429.1:p.Pro826= |