Linked Data
ClinVar Variation Id:
330105
dbSNP Id:
rs587757028
gnomAD v3:
19-54129052-C-G
gnomAD v4:
19-54129052-C-G
MyVariant Identifiers:
chr19:g.54129052C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54129052C>G , CM000681.2:g.54129052C>G | GRCh38 |
| NC_000019.8:g.59324239C>G | NCBI36 |
| NG_009759.1:g.18638C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.1147-5C>G MANE Select | ENSP00000324122.4:n.1147-5C>G | |
| ENST00000321030.8:c.1147-5C>G | ENSP00000324122.4:n.1147-5C>G | |
| ENST00000391755.1:c.1129-5C>G | ENSP00000375635.1:n.1129-5C>G | |
| ENST00000419967.5:c.1147-5C>G | ENSP00000405166.2:n.1147-5C>G | |
| ENST00000466404.5:n.1121-5C>G | ||
| NM_015629.3:c.1147-5C>G | NP_056444.3:n.1147-5C>G | |
| XM_006723137.2:c.1147-5C>G | XP_006723200.1:n.1147-5C>G | |
| XR_935789.1:n.1224-5C>G | ||
| XM_006723137.4:c.1147-5C>G | XP_006723200.1:n.1147-5C>G | |
| XR_002958293.1:n.1305-5C>G | ||
| XR_935789.3:n.1236-5C>G | ||
| NM_015629.4:c.1147-5C>G MANE Select | NP_056444.3:n.1147-5C>G |