Linked Data
ClinVar Variation Id:
1966696
ClinVar RCV Id:
RCV002745589
dbSNP Id:
rs569568887
gnomAD v2:
19-46269837-C-G
gnomAD v3:
19-45766579-C-G
gnomAD v4:
19-45766579-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766579C>G , CM000681.2:g.45766579C>G | GRCh38 |
| NC_000019.9:g.46269837C>G , CM000681.1:g.46269837C>G | GRCh37 |
| NC_000019.8:g.50961677C>G | NCBI36 |
| NG_012745.1:g.7661G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1380G>C MANE Select | ENSP00000316842.4:p.Pro460= | |
| ENST00000317578.6:c.1380G>C | ENSP00000316842.4:p.Pro460= | |
| ENST00000560160.1:c.587-468G>C | ||
| ENST00000560168.1:c.*568G>C | ENSP00000453189.2:n.*568G>C | |
| ENST00000622857.1:c.16-617G>C | ENSP00000481365.1:n.16-617G>C | |
| NM_175875.4:c.1380G>C | NP_787071.2:p.Pro460= | |
| NM_175875.5:c.1380G>C MANE Select | NP_787071.3:p.Pro460= |