Linked Data
ClinVar Variation Id:
10199
ClinVar RCV Id:
RCV000010912
dbSNP Id:
rs137852407
PubMed:
PMID:7728145
ERepo:
CA255086/MONDO:0010602/071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969360A>G , CM000685.2:g.154969360A>G | GRCh38 |
| NC_000023.10:g.154197635A>G , CM000685.1:g.154197635A>G | GRCh37 |
| NC_000023.9:g.153850829A>G | NCBI36 |
| NG_011403.1:g.58364T>C | |
| NG_011403.2:g.58364T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.980T>C MANE Select | ENSP00000353393.4:p.Leu327Pro | |
| ENST00000647125.1:c.*856T>C | ENSP00000496062.1:n.*856T>C | |
| ENST00000360256.8:c.980T>C | ENSP00000353393.4:p.Leu327Pro | |
| NM_000132.3:c.980T>C | NP_000123.1:p.Leu327Pro | |
| XM_011531126.1:c.875T>C | XP_011529428.1:p.Leu292Pro | |
| NM_000132.4:c.980T>C MANE Select | NP_000123.1:p.Leu327Pro |