Linked Data
ClinVar Variation Id:
429351
dbSNP Id:
rs1131691336
gnomAD v2:
4-159620185-T-A
gnomAD v3:
4-158699033-T-A
gnomAD v4:
4-158699033-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158699033T>A , CM000666.2:g.158699033T>A | GRCh38 |
| NC_000004.11:g.159620185T>A , CM000666.1:g.159620185T>A | GRCh37 |
| NC_000004.10:g.159839635T>A | NCBI36 |
| NG_007078.2:g.31692T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2555T>A | ||
| ENST00000682178.1:n.2051T>A | ||
| ENST00000682345.1:c.*719T>A | ENSP00000508122.1:n.*719T>A | |
| ENST00000682452.1:n.1350T>A | ||
| ENST00000682456.1:c.878T>A | ENSP00000508240.1:p.Phe293Tyr | |
| ENST00000682566.1:n.1802T>A | ||
| ENST00000682613.1:n.1331T>A | ||
| ENST00000682734.1:c.-155T>A | ENSP00000507860.1:n.-155T>A | |
| ENST00000682820.1:n.1056T>A | ||
| ENST00000683004.1:c.*809+1334T>A | ENSP00000506936.1:n.*809+1334T>A | |
| ENST00000683079.1:c.*399T>A | ENSP00000507296.1:n.*399T>A | |
| ENST00000683081.1:c.*856T>A | ENSP00000507722.1:n.*856T>A | |
| ENST00000683181.1:n.253T>A | ||
| ENST00000683305.1:c.836T>A | ENSP00000508043.1:p.Phe279Tyr | |
| ENST00000683448.1:c.524T>A | ENSP00000506931.1:p.Phe175Tyr | |
| ENST00000683478.1:c.*370T>A | ENSP00000507793.1:n.*370T>A | |
| ENST00000683483.1:c.972+1334T>A | ENSP00000507719.1:n.972+1334T>A | |
| ENST00000683751.1:c.524T>A | ENSP00000506944.1:p.Phe175Tyr | |
| ENST00000684036.1:c.836T>A | ENSP00000507276.1:p.Phe279Tyr | |
| ENST00000684129.1:c.-200T>A | ENSP00000507174.1:n.-200T>A | |
| ENST00000684209.1:n.1394T>A | ||
| ENST00000684296.1:c.1019T>A | ENSP00000507740.1:p.Phe340Tyr | |
| ENST00000684505.1:c.968T>A | ENSP00000508237.1:p.Phe323Tyr | |
| ENST00000684552.1:c.1019T>A | ENSP00000506899.1:p.Phe340Tyr | |
| ENST00000684611.1:n.2747T>A | ||
| ENST00000684622.1:c.1019T>A | ENSP00000507546.1:p.Phe340Tyr | |
| ENST00000684627.1:c.836T>A | ENSP00000507471.1:p.Phe279Tyr | |
| ENST00000684641.1:c.831+3390T>A | ENSP00000507642.1:n.831+3390T>A | |
| ENST00000684675.1:c.1019T>A | ENSP00000506934.1:p.Phe340Tyr | |
| ENST00000684749.1:n.1088T>A | ||
| ENST00000511912.6:c.1019T>A MANE Select | ENSP00000426638.1:p.Phe340Tyr | |
| ENST00000307738.5:c.878T>A | ENSP00000303552.5:p.Phe293Tyr | |
| ENST00000506422.1:n.87-4390T>A | ||
| ENST00000511912.5:c.1019T>A | ENSP00000426638.1:p.Phe340Tyr | |
| NM_001281737.1:c.878T>A | NP_001268666.1:p.Phe293Tyr | |
| NM_001281738.1:c.836T>A | NP_001268667.1:p.Phe279Tyr | |
| NM_004453.3:c.1019T>A | NP_004444.2:p.Phe340Tyr | |
| XM_024453935.1:c.836T>A | XP_024309703.1:p.Phe279Tyr | |
| NM_004453.4:c.1019T>A MANE Select | NP_004444.2:p.Phe340Tyr | |
| NM_001281737.2:c.878T>A | NP_001268666.1:p.Phe293Tyr |