Linked Data
dbSNP Id:
rs751904888
ExAC:
8:21981255 A / G
gnomAD v2:
8-21981255-A-G
gnomAD v3:
8-22123742-A-G
gnomAD v4:
8-22123742-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22123742A>G , CM000670.2:g.22123742A>G | GRCh38 |
| NC_000008.10:g.21981255A>G , CM000670.1:g.21981255A>G | GRCh37 |
| NC_000008.9:g.22037200A>G | NCBI36 |
| NG_008166.1:g.11776T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.1822T>C MANE Select | ENSP00000370826.4:p.Phe608Leu | |
| ENST00000680789.1:c.1822T>C | ENSP00000505181.1:p.Phe608Leu | |
| ENST00000312841.9:c.1822T>C | ENSP00000326765.8:p.Phe608Leu | |
| ENST00000381418.8:c.1822T>C | ENSP00000370826.4:p.Phe608Leu | |
| NM_005144.4:c.1822T>C | NP_005135.2:p.Phe608Leu | |
| NM_018411.4:c.1822T>C | NP_060881.2:p.Phe608Leu | |
| XM_005273569.1:c.1825T>C | XP_005273626.1:p.Phe609Leu | |
| XM_006716367.1:c.1825T>C | XP_006716430.1:p.Phe609Leu | |
| XM_005273569.2:c.1825T>C | XP_005273626.1:p.Phe609Leu | |
| XM_006716367.2:c.1825T>C | XP_006716430.1:p.Phe609Leu | |
| NM_005144.5:c.1822T>C MANE Select | NP_005135.2:p.Phe608Leu |