Linked Data
ClinVar Variation Id:
46232
dbSNP Id:
rs373579939
ExAC:
19:4117431 T / A
gnomAD v2:
19-4117431-T-A
gnomAD v3:
19-4117433-T-A
gnomAD v4:
19-4117433-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117433T>A , CM000681.2:g.4117433T>A | GRCh38 |
| NC_000019.9:g.4117431T>A , CM000681.1:g.4117431T>A | GRCh37 |
| NC_000019.8:g.4068431T>A | NCBI36 |
| NG_007996.1:g.11696A>T , LRG_750:g.11696A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.728A>T | ||
| ENST00000687128.1:n.728A>T | ||
| ENST00000262948.10:c.289A>T MANE Select | ENSP00000262948.4:p.Ile97Phe | |
| ENST00000262948.9:c.289A>T | ENSP00000262948.3:p.Ile97Phe | |
| ENST00000394867.8:c.-3A>T | ENSP00000378336.1:n.-3A>T | |
| ENST00000599345.1:n.486A>T | ||
| NM_030662.3:c.289A>T , LRG_750t1:c.289A>T | NP_109587.1:p.Ile97Phe | |
| XM_006722799.2:c.289A>T | XP_006722862.1:p.Ile97Phe | |
| XM_017026989.1:c.289A>T | XP_016882478.1:p.Ile97Phe | |
| XM_017026990.1:c.289A>T | XP_016882479.1:p.Ile97Phe | |
| XM_017026991.1:c.289A>T | XP_016882480.1:p.Ile97Phe | |
| NM_030662.4:c.289A>T MANE Select | NP_109587.1:p.Ile97Phe |