Linked Data
ClinVar Variation Id:
418284
ClinVar RCV Id:
RCV000478591
dbSNP Id:
rs1064793165
gnomAD v2:
4-39474748-T-A
gnomAD v3:
4-39473128-T-A
gnomAD v4:
4-39473128-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39473128T>A , CM000666.2:g.39473128T>A | GRCh38 |
| NC_000004.11:g.39474748T>A , CM000666.1:g.39474748T>A | GRCh37 |
| NC_000004.10:g.39151143T>A | NCBI36 |
| NG_032111.1:g.19084T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261434.8:c.674T>A | ENSP00000261434.4:p.Phe225Tyr | |
| ENST00000340169.7:c.954+1822T>A | ENSP00000340676.2:n.954+1822T>A | |
| ENST00000381846.2:c.854T>A | ENSP00000371270.1:p.Phe285Tyr | |
| ENST00000513731.6:c.593T>A | ENSP00000425580.1:p.Phe198Tyr | |
| ENST00000638422.1:c.*506T>A | ENSP00000491001.1:n.*506T>A | |
| ENST00000638430.1:c.680T>A | ||
| ENST00000638451.1:c.545T>A | ENSP00000491681.1:p.Phe182Tyr | |
| ENST00000639422.1:c.*339T>A | ENSP00000491899.1:n.*339T>A | |
| ENST00000639475.1:n.1036T>A | ||
| ENST00000639614.1:n.177T>A | ||
| ENST00000640349.1:c.869T>A | ENSP00000491477.1:p.Phe290Tyr | |
| ENST00000640381.1:n.1824T>A | ||
| ENST00000640672.1:c.614T>A | ENSP00000492203.1:p.Phe205Tyr | |
| ENST00000640689.1:c.*1338+1822T>A | ENSP00000491591.1:n.*1338+1822T>A | |
| ENST00000640816.1:n.1391T>A | ||
| ENST00000640888.2:c.983T>A MANE Select | ENSP00000492260.1:p.Phe328Tyr | |
| ENST00000261434.7:c.983T>A | ENSP00000261434.3:p.Phe328Tyr | |
| ENST00000340169.6:c.954+1822T>A | ENSP00000340676.2:n.954+1822T>A | |
| ENST00000381846.1:c.854T>A | ENSP00000371270.1:p.Phe285Tyr | |
| ENST00000513731.5:c.593T>A | ENSP00000425580.1:p.Phe198Tyr | |
| NM_001278590.1:c.854T>A | NP_001265519.1:p.Phe285Tyr | |
| NM_006859.3:c.983T>A | NP_006850.2:p.Phe328Tyr | |
| NM_194451.2:c.954+1822T>A | NP_919433.1:n.954+1822T>A | |
| XM_006713990.2:c.545T>A | XP_006714053.1:p.Phe182Tyr | |
| NM_001363700.1:c.674T>A | NP_001350629.1:p.Phe225Tyr | |
| XM_006713990.3:c.545T>A | XP_006714053.1:p.Phe182Tyr | |
| XM_017007665.2:c.825+1822T>A | XP_016863154.1:n.825+1822T>A | |
| XR_001741096.2:n.1722T>A | ||
| NM_001278590.2:c.854T>A | NP_001265519.1:p.Phe285Tyr | |
| NM_001363700.2:c.674T>A | NP_001350629.1:p.Phe225Tyr | |
| NM_006859.4:c.983T>A MANE Select | NP_006850.2:p.Phe328Tyr | |
| NM_194451.3:c.954+1822T>A | NP_919433.1:n.954+1822T>A |