Linked Data
dbSNP Id:
rs758010702
ExAC:
6:32007946 C / G
gnomAD v2:
6-32007946-C-G
gnomAD v4:
6-32040169-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040169C>G , CM000668.2:g.32040169C>G | GRCh38 |
| NC_000006.11:g.32007946C>G , CM000668.1:g.32007946C>G | GRCh37 |
| NC_000006.10:g.32115925C>G | NCBI36 |
| NG_007941.2:g.6862C>G | |
| NG_008337.2:g.74206G>C | |
| NG_007941.3:g.6865C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.903C>G MANE Select | ENSP00000496625.1:p.Leu301= | |
| ENST00000418967.6:c.903C>G | ENSP00000408860.2:p.Leu301= | |
| ENST00000435122.3:c.813C>G | ENSP00000415043.2:p.Leu271= | |
| ENST00000479074.5:n.961C>G | ||
| ENST00000479730.5:n.1019C>G | ||
| ENST00000483041.5:n.1072C>G | ||
| ENST00000486063.5:n.919-237C>G | ||
| NM_000500.7:c.903C>G | NP_000491.4:p.Leu301= | |
| NM_001128590.3:c.813C>G | NP_001122062.3:p.Leu271= | |
| XM_011514314.1:c.498C>G | XP_011512616.1:p.Leu166= | |
| NM_000500.9:c.903C>G MANE Select | NP_000491.4:p.Leu301= | |
| NM_001368143.1:c.498C>G | NP_001355072.1:p.Leu166= | |
| NM_001368144.1:c.498C>G | NP_001355073.1:p.Leu166= | |
| NM_001128590.4:c.813C>G | NP_001122062.3:p.Leu271= | |
| NM_001368143.2:c.498C>G | NP_001355072.1:p.Leu166= | |
| NM_001368144.2:c.498C>G | NP_001355073.1:p.Leu166= |