Linked Data
ClinVar Variation Id:
2509128
ClinVar RCV Id:
RCV003247341
dbSNP Id:
rs1315434856
gnomAD v2:
3-165547900-C-A
gnomAD v4:
3-165830112-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830112C>A , CM000665.2:g.165830112C>A | GRCh38 |
| NC_000003.11:g.165547900C>A , CM000665.1:g.165547900C>A | GRCh37 |
| NC_000003.10:g.167030594C>A | NCBI36 |
| NG_009031.1:g.12354G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.922G>T MANE Select | ENSP00000264381.3:p.Val308Phe | |
| ENST00000264381.7:c.922G>T | ENSP00000264381.3:p.Val308Phe | |
| ENST00000479451.5:c.107+7202G>T | ENSP00000418325.1:n.107+7202G>T | |
| ENST00000482958.1:c.922G>T | ENSP00000419804.1:p.Val308Phe | |
| ENST00000488954.1:c.107+7202G>T | ENSP00000418504.1:n.107+7202G>T | |
| ENST00000497011.5:c.922G>T | ENSP00000419505.1:p.Val308Phe | |
| NM_000055.2:c.922G>T | NP_000046.1:p.Val308Phe | |
| XM_005247685.1:c.1045G>T | XP_005247742.1:p.Val349Phe | |
| NM_000055.3:c.922G>T | NP_000046.1:p.Val308Phe | |
| NR_137635.1:n.159+7202G>T | ||
| NR_137636.1:n.1089G>T | ||
| NM_000055.4:c.922G>T MANE Select | NP_000046.1:p.Val308Phe | |
| NR_137635.2:n.110+7202G>T | ||
| NR_137636.2:n.1040G>T |