Linked Data
ClinVar Variation Id:
1740068
ClinVar RCV Id:
RCV002333487
dbSNP Id:
rs2141857340
gnomAD v4:
15-40718805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40718805C>T , CM000677.2:g.40718805C>T | GRCh38 |
| NC_000015.9:g.41011003C>T , CM000677.1:g.41011003C>T | GRCh37 |
| NC_000015.8:g.38798295C>T | NCBI36 |
| NG_012120.1:g.28645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267868.8:c.436C>T MANE Select | ENSP00000267868.3:p.Leu146Phe | |
| ENST00000532743.6:c.436C>T | ENSP00000433924.2:p.Leu146Phe | |
| ENST00000645673.2:c.439C>T | ENSP00000493712.2:p.Leu147Phe | |
| ENST00000267868.7:c.436C>T | ENSP00000267868.3:p.Leu146Phe | |
| ENST00000382643.7:c.439C>T | ENSP00000372088.3:p.Leu147Phe | |
| ENST00000423169.6:c.436C>T | ENSP00000406602.2:p.Leu146Phe | |
| ENST00000525066.5:c.435+9689C>T | ENSP00000431864.1:n.435+9689C>T | |
| ENST00000527860.5:c.436C>T | ENSP00000432759.1:p.Leu146Phe | |
| ENST00000531277.2:c.*15C>T | ENSP00000436512.2:n.*15C>T | |
| ENST00000532743.5:c.439C>T | ENSP00000433924.1:p.Leu147Phe | |
| ENST00000533741.1:c.403C>T | ||
| ENST00000557850.5:c.226-81C>T | ENSP00000454176.1:n.226-81C>T | |
| NM_001164269.1:c.439C>T | NP_001157741.1:p.Leu147Phe | |
| NM_001164270.1:c.436C>T | NP_001157742.1:p.Leu146Phe | |
| NM_002875.4:c.436C>T | NP_002866.2:p.Leu146Phe | |
| NM_133487.3:c.439C>T | NP_597994.3:p.Leu147Phe | |
| XM_006720626.2:c.436C>T | XP_006720689.1:p.Leu146Phe | |
| XM_011521857.1:c.436C>T | XP_011520159.1:p.Leu146Phe | |
| XM_011521858.1:c.436C>T | XP_011520160.1:p.Leu146Phe | |
| XM_011521859.1:c.436C>T | XP_011520161.1:p.Leu146Phe | |
| XM_011521860.1:c.436C>T | XP_011520162.1:p.Leu146Phe | |
| XM_011521861.1:c.436C>T | XP_011520163.1:p.Leu146Phe | |
| XM_011521862.1:c.64C>T | XP_011520164.1:p.Leu22Phe | |
| XM_006720626.3:c.436C>T | XP_006720689.1:p.Leu146Phe | |
| XM_011521857.2:c.436C>T | XP_011520159.1:p.Leu146Phe | |
| XM_011521858.2:c.436C>T | XP_011520160.1:p.Leu146Phe | |
| XM_011521859.2:c.436C>T | XP_011520161.1:p.Leu146Phe | |
| XM_011521860.2:c.436C>T | XP_011520162.1:p.Leu146Phe | |
| XM_011521861.2:c.436C>T | XP_011520163.1:p.Leu146Phe | |
| XM_011521862.3:c.64C>T | XP_011520164.1:p.Leu22Phe | |
| NM_001164269.2:c.439C>T | NP_001157741.1:p.Leu147Phe | |
| NM_001164270.2:c.436C>T | NP_001157742.1:p.Leu146Phe | |
| NM_002875.5:c.436C>T MANE Select | NP_002866.2:p.Leu146Phe | |
| NM_133487.4:c.439C>T | NP_597994.3:p.Leu147Phe |