Linked Data
ClinVar Variation Id:
1984723
ClinVar RCV Id:
RCV002775636
dbSNP Id:
rs1715262626
gnomAD v3:
4-1003622-C-T
gnomAD v4:
4-1003622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003622C>T , CM000666.2:g.1003622C>T | GRCh38 |
| NC_000004.11:g.997410C>T , CM000666.1:g.997410C>T | GRCh37 |
| NC_000004.10:g.987410C>T | NCBI36 |
| NG_008103.1:g.21626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1724C>T | ENSP00000247933.4:p.Ser575Phe | |
| ENST00000514224.2:c.1724C>T MANE Select | ENSP00000425081.2:p.Ser575Phe | |
| ENST00000652070.1:n.1780C>T | ||
| ENST00000247933.8:c.1724C>T | ENSP00000247933.4:p.Ser575Phe | |
| ENST00000514224.1:c.1328C>T | ENSP00000425081.1:p.Ser443Phe | |
| ENST00000514417.1:n.116C>T | ||
| ENST00000514698.5:n.1831C>T | ||
| NM_000203.4:c.1724C>T | NP_000194.2:p.Ser575Phe | |
| NR_110313.1:n.1812C>T | ||
| XM_006713882.2:c.1328C>T | XP_006713945.1:p.Ser443Phe | |
| XM_011513459.1:c.1790C>T | XP_011511761.1:p.Ser597Phe | |
| XM_011513460.1:c.1583C>T | XP_011511762.1:p.Ser528Phe | |
| XM_011513461.1:c.1517C>T | XP_011511763.1:p.Ser506Phe | |
| XM_011513462.1:c.1436C>T | XP_011511764.1:p.Ser479Phe | |
| XM_011513463.1:c.1436C>T | XP_011511765.1:p.Ser479Phe | |
| XR_924947.1:n.1980C>T | ||
| NM_000203.5:c.1724C>T MANE Select | NP_000194.2:p.Ser575Phe | |
| NM_001363576.1:c.1328C>T | NP_001350505.1:p.Ser443Phe | |
| XM_011513461.2:c.1517C>T | XP_011511763.1:p.Ser506Phe | |
| XM_017008163.1:c.764C>T | XP_016863652.1:p.Ser255Phe |