Linked Data
ClinVar Variation Id:
10193
ClinVar RCV Id:
RCV000010906
dbSNP Id:
rs137852403
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969438C>A , CM000685.2:g.154969438C>A | GRCh38 |
| NC_000023.10:g.154197713C>A , CM000685.1:g.154197713C>A | GRCh37 |
| NC_000023.9:g.153850907C>A | NCBI36 |
| NG_011403.1:g.58286G>T | |
| NG_011403.2:g.58286G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.902G>T MANE Select | ENSP00000353393.4:p.Arg301Leu | |
| ENST00000647125.1:c.*778G>T | ENSP00000496062.1:n.*778G>T | |
| ENST00000360256.8:c.902G>T | ENSP00000353393.4:p.Arg301Leu | |
| NM_000132.3:c.902G>T | NP_000123.1:p.Arg301Leu | |
| XM_011531126.1:c.797G>T | XP_011529428.1:p.Arg266Leu | |
| NM_000132.4:c.902G>T MANE Select | NP_000123.1:p.Arg301Leu |