Linked Data
ClinVar Variation Id:
212446
ClinVar RCV Id:
RCV000193230
dbSNP Id:
rs797046053
gnomAD v4:
19-54191745-C-G
MyVariant Identifiers:
chr19:g.54191745C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54191745C>G , CM000681.2:g.54191745C>G | GRCh38 |
| NC_000019.8:g.59387408C>G | NCBI36 |
| NG_015810.2:g.6511C>G | |
| NG_033045.2:g.3131G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396388.3:c.268C>G MANE Select | ENSP00000379671.2:p.Gln90Glu | |
| ENST00000429671.7:c.268C>G | ENSP00000397402.4:p.Gln90Glu | |
| ENST00000455798.6:c.268C>G | ENSP00000400743.2:p.Gln90Glu | |
| ENST00000653273.2:c.268C>G | ENSP00000499319.2:p.Gln90Glu | |
| ENST00000665674.2:c.268C>G | ENSP00000499684.2:p.Gln90Glu | |
| ENST00000667261.1:c.268C>G | ENSP00000499595.1:p.Gln90Glu | |
| ENST00000302937.8:c.268C>G | ENSP00000305524.4:p.Gln90Glu | |
| ENST00000396383.5:c.268C>G | ENSP00000379667.1:p.Gln90Glu | |
| ENST00000396388.2:c.268C>G | ENSP00000379671.2:p.Gln90Glu | |
| ENST00000429671.6:c.277C>G | ENSP00000397402.3:p.Gln93Glu | |
| ENST00000455798.5:c.268C>G | ENSP00000400743.1:p.Gln90Glu | |
| ENST00000456872.5:c.277C>G | ENSP00000408689.1:p.Gln93Glu | |
| ENST00000496583.1:n.1403C>G | ||
| NM_001077446.3:c.268C>G | NP_001070914.1:p.Gln90Glu | |
| NM_001282332.1:c.268C>G | NP_001269261.1:p.Gln90Glu | |
| NM_001282333.1:c.277C>G | NP_001269262.1:p.Gln93Glu | |
| NM_024075.4:c.268C>G | NP_076980.2:p.Gln90Glu | |
| XM_005278290.3:c.277C>G | XP_005278347.1:p.Gln93Glu | |
| XM_011527294.1:c.268C>G | XP_011525596.1:p.Gln90Glu | |
| XM_011527295.1:c.268C>G | XP_011525597.1:p.Gln90Glu | |
| XM_005278290.4:c.277C>G | XP_005278347.1:p.Gln93Glu | |
| XM_011527294.3:c.268C>G | XP_011525596.1:p.Gln90Glu | |
| NM_001077446.4:c.268C>G MANE Select | NP_001070914.1:p.Gln90Glu | |
| NM_024075.5:c.268C>G | NP_076980.2:p.Gln90Glu | |
| NM_001282332.2:c.268C>G | NP_001269261.1:p.Gln90Glu | |
| NM_001282333.2:c.268C>G | NP_001269262.2:p.Gln90Glu | |
| NM_001386740.1:c.268C>G | NP_001373669.1:p.Gln90Glu |