Linked Data
ClinVar Variation Id:
95686
dbSNP Id:
rs35641267
ExAC:
1:5923427 A / T
gnomAD v2:
1-5923427-A-T
gnomAD v3:
1-5863367-A-T
gnomAD v4:
1-5863367-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5863367A>T , CM000663.2:g.5863367A>T | GRCh38 |
| NC_000001.10:g.5923427A>T , CM000663.1:g.5923427A>T | GRCh37 |
| NC_000001.9:g.5846014A>T | NCBI36 |
| NG_011724.2:g.134105T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4179T>A MANE Select | ENSP00000367398.4:p.Phe1393Leu | |
| ENST00000378156.8:c.4179T>A | ENSP00000367398.4:p.Phe1393Leu | |
| ENST00000378161.5:n.3814T>A | ||
| ENST00000378169.7:c.*3080T>A | ENSP00000367411.3:n.*3080T>A | |
| ENST00000460696.1:n.3411T>A | ||
| ENST00000478423.6:n.3911T>A | ||
| ENST00000489180.6:c.*1990T>A | ENSP00000423747.1:n.*1990T>A | |
| NM_001291593.1:c.2640T>A | NP_001278522.1:p.Phe880Leu | |
| NM_001291594.1:c.2643T>A | NP_001278523.1:p.Phe881Leu | |
| NM_015102.4:c.4179T>A | NP_055917.1:p.Phe1393Leu | |
| NR_111987.1:n.4994T>A | ||
| XM_006710563.2:c.4179T>A | XP_006710626.1:p.Phe1393Leu | |
| XM_006710565.2:c.4179T>A | XP_006710628.1:p.Phe1393Leu | |
| XM_011541213.1:c.4176T>A | XP_011539515.1:p.Phe1392Leu | |
| XM_011541214.1:c.4137T>A | XP_011539516.1:p.Phe1379Leu | |
| XM_011541215.1:c.4068T>A | XP_011539517.1:p.Phe1356Leu | |
| XM_011541216.1:c.4179T>A | XP_011539518.1:p.Phe1393Leu | |
| XM_011541217.1:c.4179T>A | XP_011539519.1:p.Phe1393Leu | |
| XM_011541218.1:c.4179T>A | XP_011539520.1:p.Phe1393Leu | |
| XM_011541219.1:c.4125T>A | XP_011539521.1:p.Phe1375Leu | |
| XM_006710563.3:c.4179T>A | XP_006710626.1:p.Phe1393Leu | |
| XM_011541216.2:c.4179T>A | XP_011539518.1:p.Phe1393Leu | |
| XM_011541217.2:c.4179T>A | XP_011539519.1:p.Phe1393Leu | |
| XM_011541218.2:c.4179T>A | XP_011539520.1:p.Phe1393Leu | |
| XM_017000996.1:c.4134T>A | XP_016856485.1:p.Phe1378Leu | |
| XM_017000997.1:c.4179T>A | XP_016856486.1:p.Phe1393Leu | |
| XM_017000999.1:c.3651T>A | XP_016856488.1:p.Phe1217Leu | |
| XM_017001000.2:c.3651T>A | XP_016856489.1:p.Phe1217Leu | |
| XM_017001001.1:c.3381T>A | XP_016856490.1:p.Phe1127Leu | |
| XM_017001003.1:c.2640T>A | XP_016856492.1:p.Phe880Leu | |
| XR_001737114.1:n.4045T>A | ||
| XR_001737115.1:n.4030T>A | ||
| NM_015102.5:c.4179T>A MANE Select | NP_055917.1:p.Phe1393Leu | |
| NM_001291593.2:c.2640T>A | NP_001278522.1:p.Phe880Leu | |
| NM_001291594.2:c.2643T>A | NP_001278523.1:p.Phe881Leu | |
| NR_111987.2:n.4946T>A |