Linked Data
ClinVar Variation Id:
4360
dbSNP Id:
rs587776590
gnomAD v4:
19-54123563-A-G
MyVariant Identifiers:
chr19:g.54123563A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54123563A>G , CM000681.2:g.54123563A>G | GRCh38 |
| NC_000019.8:g.59318754A>G | NCBI36 |
| NG_009759.1:g.13153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.527+3A>G MANE Select | ENSP00000324122.4:n.527+3A>G | |
| ENST00000321030.8:c.527+3A>G | ENSP00000324122.4:n.527+3A>G | |
| ENST00000391755.1:c.527+3A>G | ENSP00000375635.1:n.527+3A>G | |
| ENST00000419967.5:c.527+3A>G | ENSP00000405166.2:n.527+3A>G | |
| ENST00000445124.5:c.527+3A>G | ENSP00000408980.1:n.527+3A>G | |
| ENST00000445811.5:c.527+3A>G | ENSP00000395894.1:n.527+3A>G | |
| ENST00000447810.5:c.527+3A>G | ENSP00000395089.1:n.527+3A>G | |
| ENST00000466404.5:n.397+3A>G | ||
| ENST00000498612.1:n.310+3A>G | ||
| NM_015629.3:c.527+3A>G | NP_056444.3:n.527+3A>G | |
| XM_006723137.2:c.527+3A>G | XP_006723200.1:n.527+3A>G | |
| XR_935789.1:n.576+3A>G | ||
| XM_006723137.4:c.527+3A>G | XP_006723200.1:n.527+3A>G | |
| XR_002958293.1:n.657+3A>G | ||
| XR_935789.3:n.588+3A>G | ||
| NM_015629.4:c.527+3A>G MANE Select | NP_056444.3:n.527+3A>G |