Linked Data
dbSNP Id:
rs762782760
ExAC:
11:20649577 G / C
gnomAD v2:
11-20649577-G-C
gnomAD v4:
11-20628031-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20628031G>C , CM000673.2:g.20628031G>C | GRCh38 |
| NC_000011.9:g.20649577G>C , CM000673.1:g.20649577G>C | GRCh37 |
| NC_000011.8:g.20606153G>C | NCBI36 |
| NG_013086.1:g.33632G>C | |
| NG_013086.2:g.33632G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1447G>C MANE Select | ENSP00000434364.2:p.Gly483Arg | |
| ENST00000298923.11:c.*744G>C | ENSP00000298923.7:n.*744G>C | |
| ENST00000525748.5:c.1447G>C | ENSP00000434364.1:p.Gly483Arg | |
| NM_004211.3:c.1447G>C | NP_004202.2:p.Gly483Arg | |
| XM_005253225.1:c.745G>C | XP_005253282.1:p.Gly249Arg | |
| XM_011520473.1:c.1447G>C | XP_011518775.1:p.Gly483Arg | |
| NM_001318369.1:c.745G>C | NP_001305298.1:p.Gly249Arg | |
| NM_004211.4:c.1447G>C | NP_004202.3:p.Gly483Arg | |
| XM_017018544.2:c.571G>C | XP_016874033.1:p.Gly191Arg | |
| XM_017018545.2:c.406G>C | XP_016874034.1:p.Gly136Arg | |
| NM_001318369.2:c.745G>C | NP_001305298.1:p.Gly249Arg | |
| NM_004211.5:c.1447G>C MANE Select | NP_004202.4:p.Gly483Arg |