Linked Data
ClinVar Variation Id:
312798
dbSNP Id:
rs367899074
ExAC:
14:21796751 C / T
gnomAD v2:
14-21796751-C-T
gnomAD v3:
14-21328592-C-T
gnomAD v4:
14-21328592-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21328592C>T , CM000676.2:g.21328592C>T | GRCh38 |
| NC_000014.8:g.21796751C>T , CM000676.1:g.21796751C>T | GRCh37 |
| NC_000014.7:g.20866591C>T | NCBI36 |
| NG_008933.1:g.45616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.3064C>T MANE Select | ENSP00000382895.2:p.Leu1022Phe | |
| ENST00000382933.8:c.1042C>T | ENSP00000372391.4:p.Leu348Phe | |
| ENST00000400017.6:c.3064C>T | ENSP00000382895.2:p.Leu1022Phe | |
| ENST00000553927.1:n.1996C>T | ||
| ENST00000555322.5:c.1491C>T | ||
| ENST00000555489.5:c.1257C>T | ENSP00000451044.1:n.1257C>T | |
| ENST00000555587.5:c.1489C>T | ENSP00000451262.1:p.Leu497Phe | |
| ENST00000556336.5:c.2035C>T | ENSP00000450445.1:p.Leu679Phe | |
| ENST00000557771.5:c.2950C>T | ENSP00000451219.1:p.Leu984Phe | |
| NM_020366.3:c.3064C>T | NP_065099.3:p.Leu1022Phe | |
| XM_005267879.2:c.1990C>T | XP_005267936.1:p.Leu664Phe | |
| XM_005267880.2:c.1957C>T | XP_005267937.1:p.Leu653Phe | |
| XM_005267881.2:c.1438C>T | XP_005267938.1:p.Leu480Phe | |
| XM_011536978.1:c.1990C>T | XP_011535280.1:p.Leu664Phe | |
| XM_011536979.1:c.1774C>T | XP_011535281.1:p.Leu592Phe | |
| XM_011536980.1:c.1645C>T | XP_011535282.1:p.Leu549Phe | |
| XM_011536981.1:c.1495C>T | XP_011535283.1:p.Leu499Phe | |
| XM_011536982.1:c.1150C>T | XP_011535284.1:p.Leu384Phe | |
| XM_011536983.1:c.3031C>T | XP_011535285.1:p.Leu1011Phe | |
| XM_005267881.3:c.1438C>T | XP_005267938.1:p.Leu480Phe | |
| XM_017021473.1:c.1495C>T | XP_016876962.1:p.Leu499Phe | |
| XM_024449663.1:c.1990C>T | XP_024305431.1:p.Leu664Phe | |
| XM_024449664.1:c.1495C>T | XP_024305432.1:p.Leu499Phe | |
| XM_024449665.1:c.1150C>T | XP_024305433.1:p.Leu384Phe | |
| XM_024449666.1:c.1150C>T | XP_024305434.1:p.Leu384Phe | |
| NM_001377523.1:c.1042C>T | NP_001364452.1:p.Leu348Phe | |
| NM_001377948.1:c.1990C>T | NP_001364877.1:p.Leu664Phe | |
| NM_001377949.1:c.1150C>T | NP_001364878.1:p.Leu384Phe | |
| NM_001377950.1:c.1042C>T | NP_001364879.1:p.Leu348Phe | |
| NM_001377951.1:c.544C>T | NP_001364880.1:p.Leu182Phe | |
| NM_020366.4:c.3064C>T MANE Select | NP_065099.3:p.Leu1022Phe |