Linked Data
ClinVar Variation Id:
11798
ClinVar RCV Id:
RCV000012566
dbSNP Id:
rs151340622
PubMed:
PMID:8559248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50081723T>G , CM000685.2:g.50081723T>G | GRCh38 |
| NC_000023.10:g.49846380T>G , CM000685.1:g.49846380T>G | GRCh37 |
| NC_000023.9:g.49733120T>G | NCBI36 |
| NG_007159.3:g.164108T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376091.8:c.809T>G MANE Select | ENSP00000365259.3:p.Leu270Arg | |
| ENST00000642383.1:c.59T>G | ENSP00000496353.1:p.Leu20Arg | |
| ENST00000642885.1:c.599T>G | ENSP00000496632.1:p.Leu200Arg | |
| ENST00000643129.1:c.1096T>G | ||
| ENST00000646398.1:c.599T>G | ENSP00000495122.1:p.Leu200Arg | |
| ENST00000307367.2:c.599T>G | ENSP00000304257.2:p.Leu200Arg | |
| ENST00000376088.7:c.809T>G | ENSP00000365256.3:p.Leu270Arg | |
| ENST00000376091.7:c.809T>G | ENSP00000365259.3:p.Leu270Arg | |
| ENST00000376108.7:c.599T>G | ENSP00000365276.3:p.Leu200Arg | |
| NM_000084.4:c.599T>G | NP_000075.1:p.Leu200Arg | |
| NM_001127898.3:c.809T>G | NP_001121370.1:p.Leu270Arg | |
| NM_001127899.3:c.809T>G | NP_001121371.1:p.Leu270Arg | |
| NM_001282163.1:c.659T>G | NP_001269092.1:p.Leu220Arg | |
| XM_011543888.1:c.809T>G | XP_011542190.1:p.Leu270Arg | |
| XM_011543889.1:c.599T>G | XP_011542191.1:p.Leu200Arg | |
| XM_017029257.1:c.821T>G | XP_016884746.1:p.Leu274Arg | |
| XM_017029258.1:c.821T>G | XP_016884747.1:p.Leu274Arg | |
| NM_001127898.4:c.809T>G MANE Select | NP_001121370.1:p.Leu270Arg | |
| NM_000084.5:c.599T>G | NP_000075.1:p.Leu200Arg | |
| NM_001127899.4:c.809T>G | NP_001121371.1:p.Leu270Arg | |
| NM_001282163.2:c.659T>G | NP_001269092.1:p.Leu220Arg |