Linked Data
ClinVar Variation Id:
205580
dbSNP Id:
rs753198836
ExAC:
19:1399586 C / A
gnomAD v3:
19-1399587-C-A
gnomAD v4:
19-1399587-C-A
ERepo:
CA314806/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399587C>A , CM000681.2:g.1399587C>A | GRCh38 |
| NC_000019.9:g.1399586C>A , CM000681.1:g.1399586C>A | GRCh37 |
| NC_000019.8:g.1350586C>A | NCBI36 |
| NG_009785.1:g.6967G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.328G>T MANE Select | ENSP00000252288.1:p.Val110Phe | |
| ENST00000447102.8:c.328G>T | ENSP00000403536.2:p.Val110Phe | |
| ENST00000591788.3:c.11G>T | ||
| ENST00000640164.1:n.161G>T | ||
| ENST00000640762.1:c.259G>T | ENSP00000492031.1:p.Val87Phe | |
| ENST00000252288.6:c.328G>T | ENSP00000252288.1:p.Val110Phe | |
| ENST00000447102.7:c.328G>T | ENSP00000403536.2:p.Val110Phe | |
| ENST00000591788.2:c.13G>T | ENSP00000466341.2:p.Val5Phe | |
| NM_000156.5:c.328G>T | NP_000147.1:p.Val110Phe | |
| NM_138924.2:c.328G>T | NP_620279.1:p.Val110Phe | |
| NM_000156.6:c.328G>T MANE Select | NP_000147.1:p.Val110Phe | |
| NM_138924.3:c.328G>T | NP_620279.1:p.Val110Phe |