Linked Data
ClinVar Variation Id:
888608
ClinVar RCV Id:
RCV001122040
dbSNP Id:
rs771561644
ExAC:
19:15295153 C / T
gnomAD v2:
19-15295153-C-T
gnomAD v3:
19-15184342-C-T
gnomAD v4:
19-15184342-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15184342C>T , CM000681.2:g.15184342C>T | GRCh38 |
| NC_000019.9:g.15295153C>T , CM000681.1:g.15295153C>T | GRCh37 |
| NC_000019.8:g.15156153C>T | NCBI36 |
| NG_009819.1:g.21640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.2519G>A MANE Select | ENSP00000263388.1:p.Gly840Glu | |
| ENST00000263388.6:c.2519G>A | ENSP00000263388.1:p.Gly840Glu | |
| ENST00000601011.1:c.2407+564G>A | ENSP00000473138.1:n.2407+564G>A | |
| NM_000435.2:c.2519G>A | NP_000426.2:p.Gly840Glu | |
| XM_005259924.3:c.2410+564G>A | XP_005259981.1:n.2410+564G>A | |
| XM_005259924.4:c.2410+564G>A | XP_005259981.1:n.2410+564G>A | |
| NM_000435.3:c.2519G>A MANE Select | NP_000426.2:p.Gly840Glu |