Linked Data
ClinVar Variation Id:
1959477
ClinVar RCV Id:
RCV002701296
dbSNP Id:
rs375478181
ExAC:
21:46925181 C / T
gnomAD v2:
21-46925181-C-T
gnomAD v3:
21-45505267-C-T
gnomAD v4:
21-45505267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45505267C>T , CM000683.2:g.45505267C>T | GRCh38 |
| NC_000021.8:g.46925181C>T , CM000683.1:g.46925181C>T | GRCh37 |
| NC_000021.7:g.45749609C>T | NCBI36 |
| NG_011903.1:g.105076C>T | |
| NG_028278.2:g.62877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3542C>T (COL18A1) | ENSP00000347665.5:p.Pro1181Leu | |
| ENST00000651438.1:c.3002C>T (COL18A1) MANE Select | ENSP00000498485.1:p.Pro1001Leu | |
| ENST00000342220.9:c.1043C>T (COL18A1) | ENSP00000339118.5:p.Pro348Leu | |
| ENST00000355480.9:c.3542C>T (COL18A1) | ENSP00000347665.5:p.Pro1181Leu | |
| ENST00000359759.8:c.4247C>T (COL18A1) | ENSP00000352798.4:p.Pro1416Leu | |
| ENST00000400337.6:c.3002C>T (COL18A1) | ENSP00000383191.2:p.Pro1001Leu | |
| ENST00000417954.5:c.498-6655G>A (SLC19A1) | ||
| ENST00000567670.5:c.1294-6655G>A (SLC19A1) | ENSP00000457278.1:n.1294-6655G>A | |
| NM_030582.3:c.3533C>T (COL18A1) | NP_085059.2:p.Pro1178Leu | |
| NM_130444.2:c.4238C>T (COL18A1) | NP_569711.2:p.Pro1413Leu | |
| NM_130445.3:c.2993C>T (COL18A1) | NP_569712.2:p.Pro998Leu | |
| XM_011529707.1:c.1585-2298G>A (SLC19A1) | XP_011528009.1:n.1585-2298G>A | |
| XM_017028445.2:c.1585-2298G>A (SLC19A1) | XP_016883934.1:n.1585-2298G>A | |
| NM_030582.4:c.3533C>T (COL18A1) | NP_085059.2:p.Pro1178Leu | |
| NM_130444.3:c.4238C>T (COL18A1) | NP_569711.2:p.Pro1413Leu | |
| NM_130445.4:c.2993C>T (COL18A1) | NP_569712.2:p.Pro998Leu | |
| NM_001379500.1:c.3002C>T (COL18A1) MANE Select | NP_001366429.1:p.Pro1001Leu |