Linked Data
ClinVar Variation Id:
10788
dbSNP Id:
rs137852211
gnomAD v2:
X-131220020-A-C
gnomAD v4:
X-132085992-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132085992A>C , CM000685.2:g.132085992A>C | GRCh38 |
| NC_000023.10:g.131220020A>C , CM000685.1:g.131220020A>C | GRCh37 |
| NC_000023.9:g.131047701A>C | NCBI36 |
| NG_012347.1:g.47031T>G , LRG_867:g.47031T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298542.9:c.425T>G MANE Select | ENSP00000298542.3:p.Leu142Arg | |
| ENST00000298542.8:c.425T>G | ENSP00000298542.3:p.Leu142Arg | |
| ENST00000370879.5:c.65T>G | ENSP00000359916.1:p.Leu22Arg | |
| ENST00000464296.1:c.380T>G | ENSP00000417996.1:p.Leu127Arg | |
| NM_001306193.1:c.380T>G | NP_001293122.1:p.Leu127Arg | |
| NM_194277.2:c.425T>G , LRG_867t1:c.425T>G | NP_919253.1:p.Leu142Arg | |
| XM_017029947.2:c.377T>G | XP_016885436.1:p.Leu126Arg | |
| XM_017029948.2:c.170T>G | XP_016885437.1:p.Leu57Arg | |
| XM_017029949.2:c.-50T>G | XP_016885438.1:n.-50T>G | |
| NM_001306193.2:c.380T>G | NP_001293122.1:p.Leu127Arg | |
| NM_194277.3:c.425T>G MANE Select | NP_919253.1:p.Leu142Arg |