Linked Data
ClinVar Variation Id:
1642265
ClinVar RCV Id:
RCV002143234
dbSNP Id:
rs782356785
ExAC:
19:42373752 C / T
gnomAD v2:
19-42373752-C-T
gnomAD v3:
19-41869682-C-T
gnomAD v4:
19-41869682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41869682C>T , CM000681.2:g.41869682C>T | GRCh38 |
| NC_000019.9:g.42373752C>T , CM000681.1:g.42373752C>T | GRCh37 |
| NC_000019.8:g.47065592C>T | NCBI36 |
| NG_007080.2:g.14765C>T | |
| NG_007080.3:g.14765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598742.6:c.357-17C>T (RPS19) MANE Select | ENSP00000470972.1:n.357-17C>T | |
| ENST00000600467.6:c.357-17C>T (RPS19) | ENSP00000469228.2:n.357-17C>T | |
| ENST00000221975.6:c.135-17C>T (RPS19) | ENSP00000221975.2:n.135-17C>T | |
| ENST00000593863.5:c.357-17C>T (RPS19) | ENSP00000470004.1:n.357-17C>T | |
| ENST00000598742.5:c.357-17C>T (RPS19) | ENSP00000470972.1:n.357-17C>T | |
| NM_001022.3:c.357-17C>T (RPS19) | NP_001013.1:n.357-17C>T | |
| NR_106855.1:n.56C>T (MIR6797) | ||
| NM_001321483.1:c.357-17C>T (RPS19) | NP_001308412.1:n.357-17C>T | |
| NM_001321484.1:c.357-17C>T (RPS19) | NP_001308413.1:n.357-17C>T | |
| NM_001321485.1:c.370-17C>T (RPS19) | NP_001308414.1:n.370-17C>T | |
| XM_017027113.2:c.357-17C>T (RPS19) | XP_016882602.1:n.357-17C>T | |
| NM_001022.4:c.357-17C>T (RPS19) MANE Select | NP_001013.1:n.357-17C>T | |
| NM_001321483.2:c.357-17C>T (RPS19) | NP_001308412.1:n.357-17C>T | |
| NM_001321484.2:c.357-17C>T (RPS19) | NP_001308413.1:n.357-17C>T | |
| NM_001321485.2:c.370-17C>T (RPS19) | NP_001308414.1:n.370-17C>T |