Linked Data
ClinVar Variation Id:
3133359
ClinVar RCV Id:
RCV004426252
dbSNP Id:
rs1349421258
gnomAD v4:
3-165829860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829860A>G , CM000665.2:g.165829860A>G | GRCh38 |
| NC_000003.11:g.165547648A>G , CM000665.1:g.165547648A>G | GRCh37 |
| NC_000003.10:g.167030342A>G | NCBI36 |
| NG_009031.1:g.12606T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1174T>C MANE Select | ENSP00000264381.3:p.Phe392Leu | |
| ENST00000264381.7:c.1174T>C | ENSP00000264381.3:p.Phe392Leu | |
| ENST00000479451.5:c.107+7454T>C | ENSP00000418325.1:n.107+7454T>C | |
| ENST00000482958.1:c.1174T>C | ENSP00000419804.1:p.Phe392Leu | |
| ENST00000488954.1:c.107+7454T>C | ENSP00000418504.1:n.107+7454T>C | |
| ENST00000497011.5:c.1174T>C | ENSP00000419505.1:p.Phe392Leu | |
| NM_000055.2:c.1174T>C | NP_000046.1:p.Phe392Leu | |
| XM_005247685.1:c.1297T>C | XP_005247742.1:p.Phe433Leu | |
| NM_000055.3:c.1174T>C | NP_000046.1:p.Phe392Leu | |
| NR_137635.1:n.159+7454T>C | ||
| NR_137636.1:n.1341T>C | ||
| NM_000055.4:c.1174T>C MANE Select | NP_000046.1:p.Phe392Leu | |
| NR_137635.2:n.110+7454T>C | ||
| NR_137636.2:n.1292T>C |