Linked Data
ClinVar Variation Id:
1299082
ClinVar RCV Id:
RCV001727412
dbSNP Id:
rs1412176159
gnomAD v2:
7-100771823-C-T
gnomAD v3:
7-101128542-C-T
gnomAD v4:
7-101128542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101128542C>T , CM000669.2:g.101128542C>T | GRCh38 |
| NC_000007.13:g.100771823C>T , CM000669.1:g.100771823C>T | GRCh37 |
| NC_000007.12:g.100558543C>T | NCBI36 |
| NG_013213.1:g.6445C>T , LRG_597:g.6445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.149C>T MANE Select | ENSP00000223095.4:p.Ser50Phe | |
| ENST00000223095.4:c.149C>T | ENSP00000223095.4:p.Ser50Phe | |
| NM_000602.4:c.149C>T , LRG_597t1:c.149C>T | NP_000593.1:p.Ser50Phe | |
| NM_000602.5:c.149C>T MANE Select | NP_000593.1:p.Ser50Phe | |
| NM_001386456.1:c.-32-72C>T | NP_001373385.1:n.-32-72C>T | |
| NM_001386457.1:c.149C>T | NP_001373386.1:p.Ser50Phe | |
| NM_001386458.1:c.149C>T | NP_001373387.1:p.Ser50Phe | |
| NM_001386459.1:c.149C>T | NP_001373388.1:p.Ser50Phe | |
| NM_001386460.1:c.149C>T | NP_001373389.1:p.Ser50Phe | |
| NM_001386461.1:c.149C>T | NP_001373390.1:p.Ser50Phe | |
| NM_001386462.1:c.-53C>T | NP_001373391.1:n.-53C>T | |
| NM_001386463.1:c.143C>T | NP_001373392.1:p.Ser48Phe | |
| NM_001386464.1:c.149C>T | NP_001373393.1:p.Ser50Phe | |
| NM_001386465.1:c.149C>T | NP_001373394.1:p.Ser50Phe | |
| NM_001386466.1:c.149C>T | NP_001373395.1:p.Ser50Phe |