Linked Data
dbSNP Id:
rs760921086
ExAC:
21:46925087 C / A
gnomAD v2:
21-46925087-C-A
gnomAD v4:
21-45505173-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45505173C>A , CM000683.2:g.45505173C>A | GRCh38 |
| NC_000021.8:g.46925087C>A , CM000683.1:g.46925087C>A | GRCh37 |
| NC_000021.7:g.45749515C>A | NCBI36 |
| NG_011903.1:g.104982C>A | |
| NG_028278.2:g.62971G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3448C>A (COL18A1) | ENSP00000347665.5:p.Pro1150Thr | |
| ENST00000651438.1:c.2908C>A (COL18A1) MANE Select | ENSP00000498485.1:p.Pro970Thr | |
| ENST00000342220.9:c.949C>A (COL18A1) | ENSP00000339118.5:p.Pro317Thr | |
| ENST00000355480.9:c.3448C>A (COL18A1) | ENSP00000347665.5:p.Pro1150Thr | |
| ENST00000359759.8:c.4153C>A (COL18A1) | ENSP00000352798.4:p.Pro1385Thr | |
| ENST00000400337.6:c.2908C>A (COL18A1) | ENSP00000383191.2:p.Pro970Thr | |
| ENST00000417954.5:c.498-6561G>T (SLC19A1) | ||
| ENST00000567670.5:c.1294-6561G>T (SLC19A1) | ENSP00000457278.1:n.1294-6561G>T | |
| NM_030582.3:c.3439C>A (COL18A1) | NP_085059.2:p.Pro1147Thr | |
| NM_130444.2:c.4144C>A (COL18A1) | NP_569711.2:p.Pro1382Thr | |
| NM_130445.3:c.2899C>A (COL18A1) | NP_569712.2:p.Pro967Thr | |
| XM_011529707.1:c.1585-2204G>T (SLC19A1) | XP_011528009.1:n.1585-2204G>T | |
| XM_017028445.2:c.1585-2204G>T (SLC19A1) | XP_016883934.1:n.1585-2204G>T | |
| NM_030582.4:c.3439C>A (COL18A1) | NP_085059.2:p.Pro1147Thr | |
| NM_130444.3:c.4144C>A (COL18A1) | NP_569711.2:p.Pro1382Thr | |
| NM_130445.4:c.2899C>A (COL18A1) | NP_569712.2:p.Pro967Thr | |
| NM_001379500.1:c.2908C>A (COL18A1) MANE Select | NP_001366429.1:p.Pro970Thr |