Linked Data
ClinVar Variation Id:
16830
ClinVar RCV Id:
RCV002265563
dbSNP Id:
rs121913004
PubMed:
PMID:11668632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421482A>C , CM000664.2:g.219421482A>C | GRCh38 |
| NC_000002.11:g.220286204A>C , CM000664.1:g.220286204A>C | GRCh37 |
| NC_000002.10:g.219994448A>C | NCBI36 |
| NG_008043.1:g.8106A>C , LRG_380:g.8106A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.640A>C | ||
| ENST00000683013.1:n.554A>C | ||
| ENST00000373960.4:c.1166A>C MANE Select | ENSP00000363071.3:p.Gln389Pro | |
| ENST00000373960.3:c.1166A>C | ENSP00000363071.3:p.Gln389Pro | |
| ENST00000477226.5:n.638A>C | ||
| ENST00000492726.1:n.561A>C | ||
| NM_001927.3:c.1166A>C , LRG_380t1:c.1166A>C | NP_001918.3:p.Gln389Pro | |
| NM_001927.4:c.1166A>C MANE Select | NP_001918.3:p.Gln389Pro | |
| NM_001382708.1:c.1163A>C | NP_001369637.1:p.Gln388Pro | |
| NM_001382709.1:c.736-2A>C | NP_001369638.1:n.736-2A>C | |
| NM_001382710.1:c.1097A>C | NP_001369639.1:p.Gln366Pro | |
| NM_001382711.1:c.1145A>C | NP_001369640.1:p.Gln382Pro | |
| NM_001382712.1:c.1166A>C | NP_001369641.1:p.Gln389Pro | |
| NM_001382713.1:c.896A>C | NP_001369642.1:p.Gln299Pro |