Linked Data
dbSNP Id:
rs553502993
ExAC:
6:32007159 T / G
gnomAD v2:
6-32007159-T-G
gnomAD v3:
6-32039382-T-G
gnomAD v4:
6-32039382-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039382T>G , CM000668.2:g.32039382T>G | GRCh38 |
| NC_000006.11:g.32007159T>G , CM000668.1:g.32007159T>G | GRCh37 |
| NC_000006.10:g.32115138T>G | NCBI36 |
| NG_007941.2:g.6075T>G | |
| NG_008337.2:g.74993A>C | |
| NG_007941.3:g.6078T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.474T>G MANE Select | ENSP00000496625.1:p.Pro158= | |
| ENST00000418967.6:c.474T>G | ENSP00000408860.2:p.Pro158= | |
| ENST00000435122.3:c.384T>G | ENSP00000415043.2:p.Pro128= | |
| ENST00000462278.1:n.62T>G | ||
| ENST00000464325.5:n.395T>G | ||
| ENST00000466779.5:c.*166T>G | ENSP00000417321.1:n.*166T>G | |
| ENST00000466879.5:n.525T>G | ||
| ENST00000469053.5:c.*166T>G | ENSP00000418104.1:n.*166T>G | |
| ENST00000471671.4:c.474T>G | ENSP00000418561.1:p.Pro158= | |
| ENST00000478281.5:c.507T>G | ENSP00000419572.1:p.Pro169= | |
| ENST00000479074.5:n.532T>G | ||
| ENST00000479730.5:n.629T>G | ||
| ENST00000483041.5:n.643T>G | ||
| ENST00000486063.5:n.654T>G | ||
| ENST00000488465.1:n.482T>G | ||
| NM_000500.7:c.474T>G | NP_000491.4:p.Pro158= | |
| NM_001128590.3:c.384T>G | NP_001122062.3:p.Pro128= | |
| XM_011514314.1:c.69T>G | XP_011512616.1:p.Pro23= | |
| NM_000500.9:c.474T>G MANE Select | NP_000491.4:p.Pro158= | |
| NM_001368143.1:c.69T>G | NP_001355072.1:p.Pro23= | |
| NM_001368144.1:c.69T>G | NP_001355073.1:p.Pro23= | |
| NM_001128590.4:c.384T>G | NP_001122062.3:p.Pro128= | |
| NM_001368143.2:c.69T>G | NP_001355072.1:p.Pro23= | |
| NM_001368144.2:c.69T>G | NP_001355073.1:p.Pro23= |