Linked Data
ClinVar Variation Id:
9837
ClinVar RCV Id:
RCV000010511
dbSNP Id:
rs137852585
PubMed:
PMID:8626869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711639T>G , CM000685.2:g.67711639T>G | GRCh38 |
| NC_000023.10:g.66931481T>G , CM000685.1:g.66931481T>G | GRCh37 |
| NC_000023.9:g.66848206T>G | NCBI36 |
| NG_009014.2:g.172608T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*471T>G | ENSP00000379358.4:n.*471T>G | |
| ENST00000374690.9:c.2123T>G MANE Select | ENSP00000363822.3:p.Leu708Arg | |
| ENST00000396043.3:c.750T>G | ENSP00000379358.3:n.750T>G | |
| ENST00000396044.8:c.2123T>G | ENSP00000379359.3:p.Leu708Arg | |
| ENST00000612452.5:c.2123T>G | ENSP00000484033.2:p.Leu708Arg | |
| ENST00000374690.7:c.2123T>G | ENSP00000363822.3:p.Leu708Arg | |
| ENST00000396043.2:c.527T>G | ENSP00000379358.2:p.Leu176Arg | |
| ENST00000396044.7:c.2123T>G | ENSP00000379359.3:p.Leu708Arg | |
| ENST00000612452.4:c.1553T>G | ENSP00000484033.1:p.Leu518Arg | |
| NM_000044.3:c.2123T>G | NP_000035.2:p.Leu708Arg | |
| NM_001011645.2:c.527T>G | NP_001011645.1:p.Leu176Arg | |
| NM_000044.4:c.2123T>G | NP_000035.2:p.Leu708Arg | |
| NM_001011645.3:c.527T>G | NP_001011645.1:p.Leu176Arg | |
| NM_000044.6:c.2123T>G MANE Select | NP_000035.2:p.Leu708Arg |