Linked Data
ClinVar Variation Id:
947976
ClinVar RCV Id:
RCV001219144
dbSNP Id:
rs753386551
ExAC:
19:7625588 G / A
gnomAD v2:
19-7625588-G-A
gnomAD v3:
19-7560702-G-A
gnomAD v4:
19-7560702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7560702G>A , CM000681.2:g.7560702G>A | GRCh38 |
| NC_000019.9:g.7625588G>A , CM000681.1:g.7625588G>A | GRCh37 |
| NC_000019.8:g.7531588G>A | NCBI36 |
| NG_013374.1:g.31551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3754G>A MANE Select | ENSP00000473211.1:p.Val1252Ile | |
| ENST00000221249.10:c.3640G>A | ENSP00000221249.5:p.Val1214Ile | |
| ENST00000414982.7:c.3784G>A | ENSP00000407509.2:p.Val1262Ile | |
| ENST00000450331.7:c.3640G>A | ENSP00000394348.2:p.Val1214Ile | |
| ENST00000545201.6:c.3559G>A | ENSP00000443323.1:p.Val1187Ile | |
| ENST00000597202.1:n.112G>A | ||
| ENST00000599947.1:c.186-312G>A | ||
| ENST00000600737.5:c.3754G>A | ENSP00000473211.1:p.Val1252Ile | |
| NM_001166111.1:c.3784G>A | NP_001159583.1:p.Val1262Ile | |
| NM_001166112.1:c.3559G>A | NP_001159584.1:p.Val1187Ile | |
| NM_001166113.1:c.3640G>A | NP_001159585.1:p.Val1214Ile | |
| NM_001166114.1:c.3754G>A | NP_001159586.1:p.Val1252Ile | |
| NM_006702.4:c.3640G>A | NP_006693.3:p.Val1214Ile | |
| NM_001166111.2:c.3784G>A | NP_001159583.1:p.Val1262Ile | |
| NM_001166114.2:c.3754G>A MANE Select | NP_001159586.1:p.Val1252Ile | |
| NM_006702.5:c.3640G>A | NP_006693.3:p.Val1214Ile | |
| NM_001166112.2:c.3559G>A | NP_001159584.1:p.Val1187Ile |