Linked Data
ClinVar Variation Id:
10169
ClinVar RCV Id:
RCV000010882
dbSNP Id:
rs137852386
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997011A>C , CM000685.2:g.154997011A>C | GRCh38 |
| NC_000023.10:g.154225286A>C , CM000685.1:g.154225286A>C | GRCh37 |
| NC_000023.9:g.153878480A>C | NCBI36 |
| NG_011403.1:g.30713T>G | |
| NG_011403.2:g.30713T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.350T>G MANE Select | ENSP00000353393.4:p.Leu117Arg | |
| ENST00000647125.1:c.*136T>G | ENSP00000496062.1:n.*136T>G | |
| ENST00000360256.8:c.350T>G | ENSP00000353393.4:p.Leu117Arg | |
| ENST00000423959.5:c.245T>G | ENSP00000409446.1:p.Leu82Arg | |
| ENST00000453950.1:c.332T>G | ENSP00000389153.1:p.Leu111Arg | |
| NM_000132.3:c.350T>G | NP_000123.1:p.Leu117Arg | |
| XM_011531126.1:c.245T>G | XP_011529428.1:p.Leu82Arg | |
| NM_000132.4:c.350T>G MANE Select | NP_000123.1:p.Leu117Arg |