Linked Data
dbSNP Id:
rs779092517
ExAC:
20:50401107 A / T
gnomAD v2:
20-50401107-A-T
gnomAD v4:
20-51784568-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51784568A>T , CM000682.2:g.51784568A>T | GRCh38 |
| NC_000020.10:g.50401107A>T , CM000682.1:g.50401107A>T | GRCh37 |
| NC_000020.9:g.49834514A>T | NCBI36 |
| NG_008000.1:g.22942T>A , LRG_675:g.22942T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217086.9:c.2859T>A MANE Select | ENSP00000217086.4:p.Phe953Leu | |
| ENST00000217086.8:c.2859T>A | ENSP00000217086.4:p.Phe953Leu | |
| ENST00000371539.7:c.528T>A | ENSP00000360594.3:p.Phe176Leu | |
| ENST00000395997.3:c.1548T>A | ENSP00000379319.3:p.Phe516Leu | |
| NM_020436.3:c.2859T>A , LRG_675t1:c.2859T>A | NP_065169.1:p.Phe953Leu | |
| XM_005260467.2:c.2553T>A | XP_005260524.1:p.Phe851Leu | |
| XM_006723834.2:c.2553T>A | XP_006723897.1:p.Phe851Leu | |
| XM_011528919.1:c.2733T>A | XP_011527221.1:p.Phe911Leu | |
| XM_011528920.1:c.2553T>A | XP_011527222.1:p.Phe851Leu | |
| XM_011528921.1:c.2553T>A | XP_011527223.1:p.Phe851Leu | |
| XM_011528922.1:c.2553T>A | XP_011527224.1:p.Phe851Leu | |
| XM_011528923.1:c.1548T>A | XP_011527225.1:p.Phe516Leu | |
| NM_001318031.1:c.1548T>A | NP_001304960.1:p.Phe516Leu | |
| NM_020436.4:c.2859T>A | NP_065169.1:p.Phe953Leu | |
| XM_005260467.4:c.2553T>A | XP_005260524.1:p.Phe851Leu | |
| XM_011528921.2:c.2553T>A | XP_011527223.1:p.Phe851Leu | |
| XM_011528922.2:c.2553T>A | XP_011527224.1:p.Phe851Leu | |
| NM_020436.5:c.2859T>A MANE Select | NP_065169.1:p.Phe953Leu | |
| NM_001318031.2:c.1548T>A | NP_001304960.1:p.Phe516Leu |