Linked Data
ClinVar Variation Id:
2595033
ClinVar RCV Id:
RCV003351181
dbSNP Id:
rs572742854
ExAC:
19:615969 A / C
gnomAD v2:
19-615969-A-C
gnomAD v3:
19-615969-A-C
gnomAD v4:
19-615969-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.615969A>C , CM000681.2:g.615969A>C | GRCh38 |
| NC_000019.9:g.615969A>C , CM000681.1:g.615969A>C | GRCh37 |
| NC_000019.8:g.566969A>C | NCBI36 |
| NG_023049.1:g.22600T>G | |
| NG_052810.1:g.31077A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2165A>C MANE Select | ENSP00000251287.1:p.Gln722Pro | |
| ENST00000251287.2:c.2165A>C | ENSP00000251287.1:p.Gln722Pro | |
| NM_001194.3:c.2165A>C | NP_001185.3:p.Gln722Pro | |
| NM_001194.4:c.2165A>C MANE Select | NP_001185.3:p.Gln722Pro |