Linked Data
ClinVar Variation Id:
961751
dbSNP Id:
rs79574672
ExAC:
19:1495327 C / A
gnomAD v2:
19-1495327-C-A
gnomAD v3:
19-1495328-C-A
gnomAD v4:
19-1495328-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1495328C>A , CM000681.2:g.1495328C>A | GRCh38 |
| NC_000019.9:g.1495327C>A , CM000681.1:g.1495327C>A | GRCh37 |
| NC_000019.8:g.1446327C>A | NCBI36 |
| NG_055254.1:g.9324C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.150C>A MANE Select | ENSP00000233596.2:p.Phe50Leu | |
| ENST00000395479.10:c.150C>A MANE Plus Clinical | ENSP00000378861.5:p.Phe50Leu | |
| ENST00000233596.7:c.150C>A | ENSP00000233596.2:p.Phe50Leu | |
| ENST00000591735.2:n.254C>A | ||
| NM_138393.1:c.150C>A | NP_612402.1:p.Phe50Leu | |
| NM_001329556.2:c.150C>A | NP_001316485.1:p.Phe50Leu | |
| NM_138393.3:c.150C>A | NP_612402.1:p.Phe50Leu | |
| NM_138393.4:c.150C>A MANE Select | NP_612402.1:p.Phe50Leu | |
| NM_001329556.3:c.150C>A MANE Plus Clinical | NP_001316485.1:p.Phe50Leu |