Linked Data
ClinVar Variation Id:
16821
ClinVar RCV Id:
RCV002265558
dbSNP Id:
rs121913000
PubMed:
PMID:9697706
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421394G>C , CM000664.2:g.219421394G>C | GRCh38 |
| NC_000002.11:g.220286116G>C , CM000664.1:g.220286116G>C | GRCh37 |
| NC_000002.10:g.219994360G>C | NCBI36 |
| NG_008043.1:g.8018G>C , LRG_380:g.8018G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.552G>C | ||
| ENST00000683013.1:n.466G>C | ||
| ENST00000373960.4:c.1078G>C MANE Select | ENSP00000363071.3:p.Ala360Pro | |
| ENST00000373960.3:c.1078G>C | ENSP00000363071.3:p.Ala360Pro | |
| ENST00000477226.5:n.550G>C | ||
| ENST00000492726.1:n.473G>C | ||
| NM_001927.3:c.1078G>C , LRG_380t1:c.1078G>C | NP_001918.3:p.Ala360Pro | |
| NM_001927.4:c.1078G>C MANE Select | NP_001918.3:p.Ala360Pro | |
| NM_001382708.1:c.1075G>C | NP_001369637.1:p.Ala359Pro | |
| NM_001382709.1:c.736-90G>C | NP_001369638.1:n.736-90G>C | |
| NM_001382710.1:c.1024-15G>C | NP_001369639.1:n.1024-15G>C | |
| NM_001382711.1:c.1057G>C | NP_001369640.1:p.Ala353Pro | |
| NM_001382712.1:c.1078G>C | NP_001369641.1:p.Ala360Pro | |
| NM_001382713.1:c.808G>C | NP_001369642.1:p.Ala270Pro |