Linked Data
ClinVar Variation Id:
3143033
ClinVar RCV Id:
RCV004428402
dbSNP Id:
rs1941300785
gnomAD v4:
12-51951789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51951789C>T , CM000674.2:g.51951789C>T | GRCh38 |
| NC_000012.11:g.52345573C>T , CM000674.1:g.52345573C>T | GRCh37 |
| NC_000012.10:g.50631840C>T | NCBI36 |
| NG_022926.1:g.5123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257963.9:c.46C>T MANE Select | ENSP00000257963.4:p.Leu16Phe | |
| ENST00000257963.8:c.46C>T | ENSP00000257963.4:p.Leu16Phe | |
| ENST00000415850.6:c.46C>T | ENSP00000397550.2:p.Leu16Phe | |
| ENST00000426655.6:c.46C>T | ENSP00000390477.2:p.Leu16Phe | |
| ENST00000536420.5:c.-243C>T | ENSP00000443218.1:n.-243C>T | |
| ENST00000541224.5:c.46C>T | ENSP00000442656.1:p.Leu16Phe | |
| NM_004302.4:c.46C>T | NP_004293.1:p.Leu16Phe | |
| NM_020328.3:c.46C>T | NP_064733.3:p.Leu16Phe | |
| XM_011538966.1:c.46C>T | XP_011537268.1:p.Leu16Phe | |
| XM_011538967.1:c.46C>T | XP_011537269.1:p.Leu16Phe | |
| XM_011538966.3:c.46C>T | XP_011537268.1:p.Leu16Phe | |
| XM_011538967.3:c.46C>T | XP_011537269.1:p.Leu16Phe | |
| XM_017020201.2:c.46C>T | XP_016875690.1:p.Leu16Phe | |
| NM_004302.5:c.46C>T MANE Select | NP_004293.1:p.Leu16Phe | |
| NM_020328.4:c.46C>T | NP_064733.3:p.Leu16Phe |