Linked Data
dbSNP Id:
rs765898204
ExAC:
11:6340613 A / C
gnomAD v2:
11-6340613-A-C
gnomAD v4:
11-6319383-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319383A>C , CM000673.2:g.6319383A>C | GRCh38 |
| NC_000011.9:g.6340613A>C , CM000673.1:g.6340613A>C | GRCh37 |
| NC_000011.8:g.6297189A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.566T>G MANE Select | ENSP00000307292.3:p.Leu189Arg | |
| ENST00000303927.3:c.566T>G | ENSP00000307292.3:p.Leu189Arg | |
| ENST00000524852.1:n.352T>G | ||
| ENST00000530979.1:c.662T>G | ENSP00000432047.1:p.Leu221Arg | |
| ENST00000532354.1:n.588T>G | ||
| NM_145040.2:c.566T>G | NP_659477.2:p.Leu189Arg | |
| XR_930997.1:n.720+1163A>C | ||
| XR_242848.4:n.243A>C | ||
| NM_145040.3:c.566T>G MANE Select | NP_659477.2:p.Leu189Arg |