Linked Data
ClinVar Variation Id:
94129
dbSNP Id:
rs398123697
ExAC:
16:20360306 C / A
gnomAD v2:
16-20360306-C-A
gnomAD v3:
16-20348984-C-A
gnomAD v4:
16-20348984-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20348984C>A , CM000678.2:g.20348984C>A | GRCh38 |
| NC_000016.9:g.20360306C>A , CM000678.1:g.20360306C>A | GRCh37 |
| NC_000016.8:g.20267807C>A | NCBI36 |
| NG_008151.1:g.8732G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396138.9:c.317G>T MANE Select | ENSP00000379442.5:p.Cys106Phe | |
| ENST00000577168.2:c.317G>T | ENSP00000459738.2:p.Cys106Phe | |
| ENST00000302509.8:c.317G>T | ENSP00000306279.4:p.Cys106Phe | |
| ENST00000396134.6:c.416G>T | ENSP00000379438.2:p.Cys139Phe | |
| ENST00000396138.8:c.464G>T | ENSP00000379442.4:p.Cys155Phe | |
| ENST00000570689.5:c.317G>T | ENSP00000460548.1:p.Cys106Phe | |
| ENST00000571174.5:c.317G>T | ENSP00000458939.1:p.Cys106Phe | |
| ENST00000573567.5:c.386G>T | ENSP00000460374.1:p.Cys129Phe | |
| ENST00000574195.5:c.479G>T | ENSP00000460845.1:p.Cys160Phe | |
| ENST00000577168.1:c.401G>T | ENSP00000459738.1:p.Cys134Phe | |
| NM_001008389.2:c.317G>T | NP_001008390.1:p.Cys106Phe | |
| NM_001278614.1:c.416G>T | NP_001265543.1:p.Cys139Phe | |
| NM_003361.3:c.317G>T | NP_003352.2:p.Cys106Phe | |
| XM_011545934.1:c.401G>T | XP_011544236.1:p.Cys134Phe | |
| XM_011545935.1:c.317G>T | XP_011544237.1:p.Cys106Phe | |
| XM_011545936.1:c.317G>T | XP_011544238.1:p.Cys106Phe | |
| XM_011545937.1:c.317G>T | XP_011544239.1:p.Cys106Phe | |
| XM_011545938.1:c.317G>T | XP_011544240.1:p.Cys106Phe | |
| XM_011545939.1:c.401G>T | XP_011544241.1:p.Cys134Phe | |
| XM_011545940.1:c.464G>T | XP_011544242.1:p.Cys155Phe | |
| XM_011545934.2:c.317G>T | XP_011544236.2:p.Cys106Phe | |
| XM_011545940.2:c.317G>T | XP_011544242.2:p.Cys106Phe | |
| XM_024450433.1:c.317G>T | XP_024306201.1:p.Cys106Phe | |
| NM_001008389.3:c.317G>T | NP_001008390.1:p.Cys106Phe | |
| NM_001278614.2:c.416G>T | NP_001265543.1:p.Cys139Phe | |
| NM_001378232.1:c.317G>T | NP_001365161.1:p.Cys106Phe | |
| NM_001378233.1:c.317G>T | NP_001365162.1:p.Cys106Phe | |
| NM_001378234.1:c.317G>T | NP_001365163.1:p.Cys106Phe | |
| NM_001378235.1:c.317G>T | NP_001365164.1:p.Cys106Phe | |
| NM_001378237.1:c.317G>T | NP_001365166.1:p.Cys106Phe | |
| NM_003361.4:c.317G>T MANE Select | NP_003352.2:p.Cys106Phe | |
| NR_165456.1:n.542G>T |