Linked Data
ClinVar Variation Id:
769011
ClinVar RCV Id:
RCV000947963
dbSNP Id:
rs3198831
ExAC:
19:43420451 G / C
gnomAD v2:
19-43420451-G-C
gnomAD v3:
19-42916299-G-C
gnomAD v4:
19-42916299-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42916299G>C , CM000681.2:g.42916299G>C | GRCh38 |
| NC_000019.9:g.43420451G>C , CM000681.1:g.43420451G>C | GRCh37 |
| NC_000019.8:g.48112291G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000187910.7:c.253C>G (PSG6) MANE Select | ENSP00000187910.3:p.His85Asp | |
| ENST00000187910.6:c.253C>G (PSG6) | ENSP00000187910.2:p.His85Asp | |
| ENST00000292125.6:c.253C>G (PSG6) | ENSP00000292125.2:p.His85Asp | |
| ENST00000402456.4:n.343C>G (PSG6) | ||
| ENST00000402603.8:c.253C>G (PSG6) | ENSP00000385736.3:p.His85Asp | |
| ENST00000484292.2:n.282+1430C>G (PSG6) | ||
| ENST00000594375.1:c.64+1430C>G (PSG6) | ENSP00000470412.1:n.64+1430C>G | |
| ENST00000595062.1:n.100C>G (PSG6) | ||
| ENST00000601833.1:c.40C>G (PSG6) | ENSP00000469423.1:p.His14Asp | |
| ENST00000617049.4:c.989-9123C>G (PSG7) | ENSP00000480429.1:n.989-9123C>G | |
| NM_001031850.3:c.253C>G (PSG6) | NP_001027020.1:p.His85Asp | |
| NM_002782.4:c.253C>G (PSG6) | NP_002773.1:p.His85Asp | |
| NM_001031850.4:c.253C>G (PSG6) MANE Select | NP_001027020.1:p.His85Asp | |
| NM_002782.5:c.253C>G (PSG6) | NP_002773.1:p.His85Asp |