Linked Data
dbSNP Id:
rs750032680
ExAC:
1:5924006 A / G
gnomAD v2:
1-5924006-A-G
gnomAD v4:
1-5863946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5863946A>G , CM000663.2:g.5863946A>G | GRCh38 |
| NC_000001.10:g.5924006A>G , CM000663.1:g.5924006A>G | GRCh37 |
| NC_000001.9:g.5846593A>G | NCBI36 |
| NG_011724.2:g.133526T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4084T>C MANE Select | ENSP00000367398.4:p.Phe1362Leu | |
| ENST00000378156.8:c.4084T>C | ENSP00000367398.4:p.Phe1362Leu | |
| ENST00000378161.5:n.3235T>C | ||
| ENST00000378169.7:c.*2985T>C | ENSP00000367411.3:n.*2985T>C | |
| ENST00000460696.1:n.2832T>C | ||
| ENST00000478423.6:n.3816T>C | ||
| ENST00000489180.6:c.*1895T>C | ENSP00000423747.1:n.*1895T>C | |
| NM_001291593.1:c.2545T>C | NP_001278522.1:p.Phe849Leu | |
| NM_001291594.1:c.2548T>C | NP_001278523.1:p.Phe850Leu | |
| NM_015102.4:c.4084T>C | NP_055917.1:p.Phe1362Leu | |
| NR_111987.1:n.4899T>C | ||
| XM_006710563.2:c.4084T>C | XP_006710626.1:p.Phe1362Leu | |
| XM_006710565.2:c.4084T>C | XP_006710628.1:p.Phe1362Leu | |
| XM_011541213.1:c.4081T>C | XP_011539515.1:p.Phe1361Leu | |
| XM_011541214.1:c.4042T>C | XP_011539516.1:p.Phe1348Leu | |
| XM_011541215.1:c.3973T>C | XP_011539517.1:p.Phe1325Leu | |
| XM_011541216.1:c.4084T>C | XP_011539518.1:p.Phe1362Leu | |
| XM_011541217.1:c.4084T>C | XP_011539519.1:p.Phe1362Leu | |
| XM_011541218.1:c.4084T>C | XP_011539520.1:p.Phe1362Leu | |
| XM_011541219.1:c.4030T>C | XP_011539521.1:p.Phe1344Leu | |
| XM_006710563.3:c.4084T>C | XP_006710626.1:p.Phe1362Leu | |
| XM_011541216.2:c.4084T>C | XP_011539518.1:p.Phe1362Leu | |
| XM_011541217.2:c.4084T>C | XP_011539519.1:p.Phe1362Leu | |
| XM_011541218.2:c.4084T>C | XP_011539520.1:p.Phe1362Leu | |
| XM_017000996.1:c.4039T>C | XP_016856485.1:p.Phe1347Leu | |
| XM_017000997.1:c.4084T>C | XP_016856486.1:p.Phe1362Leu | |
| XM_017000999.1:c.3556T>C | XP_016856488.1:p.Phe1186Leu | |
| XM_017001000.2:c.3556T>C | XP_016856489.1:p.Phe1186Leu | |
| XM_017001001.1:c.3286T>C | XP_016856490.1:p.Phe1096Leu | |
| XM_017001003.1:c.2545T>C | XP_016856492.1:p.Phe849Leu | |
| XR_001737114.1:n.3950T>C | ||
| XR_001737115.1:n.3935T>C | ||
| NM_015102.5:c.4084T>C MANE Select | NP_055917.1:p.Phe1362Leu | |
| NM_001291593.2:c.2545T>C | NP_001278522.1:p.Phe849Leu | |
| NM_001291594.2:c.2548T>C | NP_001278523.1:p.Phe850Leu | |
| NR_111987.2:n.4851T>C |