Linked Data
dbSNP Id:
rs750505809
ExAC:
3:169514669 C / G
gnomAD v2:
3-169514669-C-G
gnomAD v3:
3-169796881-C-G
gnomAD v4:
3-169796881-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169796881C>G , CM000665.2:g.169796881C>G | GRCh38 |
| NC_000003.11:g.169514669C>G , CM000665.1:g.169514669C>G | GRCh37 |
| NC_000003.10:g.170997363C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446859.7:c.772G>C MANE Select | ENSP00000414635.1:p.Val258Leu | |
| ENST00000446859.5:c.772G>C | ENSP00000414635.1:p.Val258Leu | |
| ENST00000522080.5:n.749G>C | ||
| ENST00000522329.1:n.21G>C | ||
| ENST00000522526.6:c.676G>C | ENSP00000429278.2:p.Val226Leu | |
| ENST00000522596.6:n.754G>C | ||
| ENST00000522830.5:c.589G>C | ENSP00000429593.1:p.Val197Leu | |
| ENST00000524054.5:n.620G>C | ||
| ENST00000524327.5:n.572G>C | ||
| ENST00000528597.1:c.19G>C | ENSP00000436883.1:p.Val7Leu | |
| ENST00000602774.1:n.158G>C | ||
| NM_001172779.1:c.772G>C | NP_001166250.1:p.Val258Leu | |
| NM_001172780.1:c.772G>C | NP_001166251.1:p.Val258Leu | |
| NM_153353.4:c.676G>C | NP_699184.2:p.Val226Leu | |
| XM_005247133.2:c.589G>C | XP_005247190.1:p.Val197Leu | |
| XM_006713508.2:c.718G>C | XP_006713571.1:p.Val240Leu | |
| XM_011512442.1:c.769G>C | XP_011510744.1:p.Val257Leu | |
| NM_001363888.1:c.589G>C | NP_001350817.1:p.Val197Leu | |
| XM_006713508.4:c.718G>C | XP_006713571.1:p.Val240Leu | |
| XM_011512442.2:c.769G>C | XP_011510744.1:p.Val257Leu | |
| XM_017005746.1:c.586G>C | XP_016861235.1:p.Val196Leu | |
| NM_001172779.2:c.772G>C MANE Select | NP_001166250.1:p.Val258Leu | |
| NM_001172780.2:c.772G>C | NP_001166251.1:p.Val258Leu | |
| NM_001363888.2:c.589G>C | NP_001350817.1:p.Val197Leu | |
| NM_001370608.1:c.586G>C | NP_001357537.1:p.Val196Leu | |
| NM_001370609.1:c.589G>C | NP_001357538.1:p.Val197Leu | |
| NM_153353.5:c.676G>C | NP_699184.2:p.Val226Leu |