Linked Data
ClinVar Variation Id:
2413648
ClinVar RCV Id:
RCV003104444
dbSNP Id:
rs1718030585
gnomAD v4:
3-164996759-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996759A>C , CM000665.2:g.164996759A>C | GRCh38 |
| NC_000003.11:g.164714547A>C , CM000665.1:g.164714547A>C | GRCh37 |
| NC_000003.10:g.166197241A>C | NCBI36 |
| NG_017043.1:g.86737T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4554T>G MANE Select | ENSP00000264382.3:p.Phe1518Leu | |
| ENST00000264382.7:c.4554T>G | ENSP00000264382.3:p.Phe1518Leu | |
| NM_001041.3:c.4554T>G | NP_001032.2:p.Phe1518Leu | |
| XM_011513078.1:c.4455T>G | XP_011511380.1:p.Phe1485Leu | |
| XM_011513078.2:c.4455T>G | XP_011511380.1:p.Phe1485Leu | |
| NM_001041.4:c.4554T>G MANE Select | NP_001032.2:p.Phe1518Leu |