Linked Data
ClinVar Variation Id:
391673
ClinVar RCV Id:
RCV000418676
dbSNP Id:
rs753793346
ExAC:
19:615971 G / A
gnomAD v2:
19-615971-G-A
gnomAD v3:
19-615971-G-A
gnomAD v4:
19-615971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.615971G>A , CM000681.2:g.615971G>A | GRCh38 |
| NC_000019.9:g.615971G>A , CM000681.1:g.615971G>A | GRCh37 |
| NC_000019.8:g.566971G>A | NCBI36 |
| NG_023049.1:g.22598C>T | |
| NG_052810.1:g.31079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2167G>A MANE Select | ENSP00000251287.1:p.Val723Ile | |
| ENST00000251287.2:c.2167G>A | ENSP00000251287.1:p.Val723Ile | |
| NM_001194.3:c.2167G>A | NP_001185.3:p.Val723Ile | |
| NM_001194.4:c.2167G>A MANE Select | NP_001185.3:p.Val723Ile |