Linked Data
dbSNP Id:
rs28374453
ExAC:
16:28617413 A / G
gnomAD v2:
16-28617413-A-G
gnomAD v3:
16-28606092-A-G
gnomAD v4:
16-28606092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28606092A>G , CM000678.2:g.28606092A>G | GRCh38 |
| NC_000016.9:g.28617413A>G , CM000678.1:g.28617413A>G | GRCh37 |
| NC_000016.8:g.28524914A>G | NCBI36 |
| NG_028128.1:g.22454T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314752.12:c.739T>C MANE Select | ENSP00000321988.7:p.Phe247Leu | |
| ENST00000395607.6:c.*1451+2616T>C | ENSP00000378971.2:n.*1451+2616T>C | |
| ENST00000395609.6:n.2372T>C | ||
| ENST00000677940.1:c.139-12524T>C | ENSP00000503077.1:n.139-12524T>C | |
| ENST00000679262.1:c.*118+13971T>C | ENSP00000502863.1:n.*118+13971T>C | |
| ENST00000314752.11:c.739T>C | ENSP00000321988.7:p.Phe247Leu | |
| ENST00000350842.8:c.505T>C | ENSP00000329399.4:p.Phe169Leu | |
| ENST00000395607.5:c.739T>C | ENSP00000378971.1:p.Phe247Leu | |
| ENST00000395609.5:c.739T>C | ENSP00000378972.1:p.Phe247Leu | |
| ENST00000562058.5:c.*971T>C | ENSP00000456215.1:n.*971T>C | |
| ENST00000563493.1:c.*623T>C | ENSP00000457083.1:n.*623T>C | |
| ENST00000564818.5:c.*1044T>C | ENSP00000454388.1:n.*1044T>C | |
| ENST00000566189.5:c.739T>C | ENSP00000456459.1:p.Phe247Leu | |
| ENST00000567998.5:n.7569T>C | ||
| ENST00000569554.5:c.739T>C | ENSP00000457912.1:p.Phe247Leu | |
| NM_001055.3:c.739T>C | NP_001046.2:p.Phe247Leu | |
| NM_177529.2:c.739T>C | NP_803565.1:p.Phe247Leu | |
| NM_177530.2:c.739T>C | NP_803566.1:p.Phe247Leu | |
| NM_177534.2:c.739T>C | NP_803878.1:p.Phe247Leu | |
| NM_177536.3:c.505T>C | NP_803880.1:p.Phe169Leu | |
| XM_017023604.1:c.757T>C | XP_016879093.1:p.Phe253Leu | |
| XM_017023605.1:c.757T>C | XP_016879094.1:p.Phe253Leu | |
| XM_017023607.2:c.1012T>C | XP_016879096.1:p.Phe338Leu | |
| XM_017023608.1:c.757T>C | XP_016879097.1:p.Phe253Leu | |
| XM_017023609.1:c.757T>C | XP_016879098.1:p.Phe253Leu | |
| XM_017023610.1:c.757T>C | XP_016879099.1:p.Phe253Leu | |
| XM_017023611.2:c.739T>C | XP_016879100.1:p.Phe247Leu | |
| XM_017023612.2:c.739T>C | XP_016879101.1:p.Phe247Leu | |
| XM_017023613.2:c.739T>C | XP_016879102.1:p.Phe247Leu | |
| XM_024450408.1:c.1015T>C | XP_024306176.1:p.Phe339Leu | |
| XM_024450409.1:c.739T>C | XP_024306177.1:p.Phe247Leu | |
| XM_024450410.1:c.739T>C | XP_024306178.1:p.Phe247Leu | |
| XM_024450411.1:c.739T>C | XP_024306179.1:p.Phe247Leu | |
| XR_001751973.1:n.980T>C | ||
| NM_177530.3:c.739T>C | NP_803566.1:p.Phe247Leu | |
| NM_177534.3:c.739T>C | NP_803878.1:p.Phe247Leu | |
| NM_177536.4:c.505T>C | NP_803880.1:p.Phe169Leu | |
| NM_001055.4:c.739T>C MANE Select | NP_001046.2:p.Phe247Leu | |
| NM_001394421.1:c.739T>C | NP_001381350.1:p.Phe247Leu | |
| NM_001394422.1:c.739T>C | NP_001381351.1:p.Phe247Leu | |
| NM_001394423.1:c.739T>C | NP_001381352.1:p.Phe247Leu | |
| NM_001394424.1:c.739T>C | NP_001381353.1:p.Phe247Leu | |
| NM_001394425.1:c.739T>C | NP_001381354.1:p.Phe247Leu | |
| NM_177529.3:c.739T>C | NP_803565.1:p.Phe247Leu | |
| NM_177530.4:c.739T>C | NP_803566.1:p.Phe247Leu | |
| NM_177534.4:c.739T>C | NP_803878.1:p.Phe247Leu | |
| NM_177536.5:c.436T>C | NP_803880.2:p.Phe146Leu |