Linked Data
ClinVar Variation Id:
43085
ClinVar RCV Id:
RCV000035980
dbSNP Id:
rs397516253
PubMed:
PMID:29300372
ERepo:
CA016422/MONDO:0005021/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23413823C>G , CM000676.2:g.23413823C>G | GRCh38 |
| NC_000014.8:g.23883032C>G , CM000676.1:g.23883032C>G | GRCh37 |
| NC_000014.7:g.22952872C>G | NCBI36 |
| NG_007884.1:g.26839G>C , LRG_384:g.26839G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.5726G>C MANE Select | ENSP00000347507.3:p.Arg1909Pro | |
| ENST00000355349.3:c.5726G>C | ENSP00000347507.3:p.Arg1909Pro | |
| NM_000257.3:c.5726G>C | NP_000248.2:p.Arg1909Pro | |
| XM_017021340.1:c.5726G>C | XP_016876829.1:p.Arg1909Pro | |
| NM_000257.4:c.5726G>C MANE Select | NP_000248.2:p.Arg1909Pro |