Linked Data
ClinVar Variation Id:
640514
ClinVar RCV Id:
RCV000793555
dbSNP Id:
rs766950553
ExAC:
4:995789 C / T
gnomAD v2:
4-995789-C-T
gnomAD v3:
4-1002001-C-T
gnomAD v4:
4-1002001-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002001C>T , CM000666.2:g.1002001C>T | GRCh38 |
| NC_000004.11:g.995789C>T , CM000666.1:g.995789C>T | GRCh37 |
| NC_000004.10:g.985789C>T | NCBI36 |
| NG_008103.1:g.20005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.812C>T | ENSP00000247933.4:p.Ser271Phe | |
| ENST00000514224.2:c.812C>T MANE Select | ENSP00000425081.2:p.Ser271Phe | |
| ENST00000652070.1:n.868C>T | ||
| ENST00000247933.8:c.812C>T | ENSP00000247933.4:p.Ser271Phe | |
| ENST00000502910.5:c.671C>T | ENSP00000422952.1:p.Ser224Phe | |
| ENST00000514192.5:c.629C>T | ENSP00000423685.1:p.Ser210Phe | |
| ENST00000514224.1:c.416C>T | ENSP00000425081.1:p.Ser139Phe | |
| ENST00000514698.5:n.812C>T | ||
| NM_000203.4:c.812C>T | NP_000194.2:p.Ser271Phe | |
| NR_110313.1:n.900C>T | ||
| XM_006713882.2:c.416C>T | XP_006713945.1:p.Ser139Phe | |
| XM_011513459.1:c.771C>T | XP_011511761.1:p.Leu257= | |
| XM_011513460.1:c.671C>T | XP_011511762.1:p.Ser224Phe | |
| XM_011513461.1:c.605C>T | XP_011511763.1:p.Ser202Phe | |
| XM_011513462.1:c.524C>T | XP_011511764.1:p.Ser175Phe | |
| XM_011513463.1:c.524C>T | XP_011511765.1:p.Ser175Phe | |
| XR_924947.1:n.881C>T | ||
| NM_000203.5:c.812C>T MANE Select | NP_000194.2:p.Ser271Phe | |
| NM_001363576.1:c.416C>T | NP_001350505.1:p.Ser139Phe | |
| XM_011513461.2:c.605C>T | XP_011511763.1:p.Ser202Phe | |
| XM_017008163.1:c.-149C>T | XP_016863652.1:n.-149C>T |