Linked Data
ClinVar Variation Id:
915142
ClinVar RCV Id:
RCV001169611
dbSNP Id:
rs1427047737
gnomAD v2:
9-97401424-G-A
gnomAD v3:
9-94639142-G-A
gnomAD v4:
9-94639142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639142G>A , CM000671.2:g.94639142G>A | GRCh38 |
| NC_000009.11:g.97401424G>A , CM000671.1:g.97401424G>A | GRCh37 |
| NC_000009.10:g.96441245G>A | NCBI36 |
| NG_008174.1:g.6108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.169C>T | ENSP00000507547.1:p.Leu57Phe | |
| ENST00000375326.9:c.169C>T MANE Select | ENSP00000364475.5:p.Leu57Phe | |
| ENST00000375326.8:c.169C>T | ENSP00000364475.4:p.Leu57Phe | |
| ENST00000414122.1:c.-83+902C>T | ENSP00000411619.1:n.-83+902C>T | |
| ENST00000415431.5:c.169C>T | ENSP00000408025.1:p.Leu57Phe | |
| NM_000507.3:c.169C>T | NP_000498.2:p.Leu57Phe | |
| NM_001127628.1:c.169C>T | NP_001121100.1:p.Leu57Phe | |
| XM_006717005.2:c.-77+902C>T | XP_006717068.1:n.-77+902C>T | |
| XM_006717005.4:c.-77+902C>T | XP_006717068.1:n.-77+902C>T | |
| NM_000507.4:c.169C>T MANE Select | NP_000498.2:p.Leu57Phe | |
| NM_001127628.2:c.169C>T | NP_001121100.1:p.Leu57Phe |