COSMIC:
COSM3746747 (not active)
COSM3746748 (not active)
Revel Score:
ENST00000340758
0.182
ENST00000270218
0.182
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81826412 (AFR)
Genomes Max Group AF
0.81064883 (AFR)
Exomes Max Group AF
0.82289984 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206842612T>C , CM000663.2:g.206842612T>C | GRCh38 |
| NC_000001.10:g.207015957T>C , CM000663.1:g.207015957T>C | GRCh37 |
| NC_000001.9:g.205082580T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000659997.3:c.524T>C MANE Select | ENSP00000499459.2:p.Phe175Ser | |
| ENST00000340758.7:c.524T>C | ENSP00000343000.3:p.Phe175Ser | |
| ENST00000656872.2:c.524T>C | ENSP00000499487.2:p.Phe175Ser | |
| ENST00000659997.2:c.524T>C | ENSP00000499459.2:p.Phe175Ser | |
| ENST00000270218.10:c.524T>C | ENSP00000270218.6:p.Phe175Ser | |
| ENST00000340758.6:c.638T>C | ENSP00000343000.2:p.Phe213Ser | |
| ENST00000620365.1:c.524T>C | ENSP00000482668.1:p.Phe175Ser | |
| NM_013371.3:c.524T>C | NP_037503.2:p.Phe175Ser | |
| NM_153758.2:c.638T>C | NP_715639.1:p.Phe213Ser | |
| XR_922482.1:n.210A>G | ||
| XR_922482.2:n.210A>G | ||
| NM_001369605.1:c.524T>C | NP_001356534.1:p.Phe175Ser | |
| NM_153758.3:c.638T>C | NP_715639.1:p.Phe213Ser | |
| NM_001393490.1:c.524T>C | NP_001380419.1:p.Phe175Ser | |
| NM_001393491.1:c.524T>C | NP_001380420.1:p.Phe175Ser | |
| NM_013371.5:c.524T>C | NP_037503.2:p.Phe175Ser | |
| NM_153758.5:c.524T>C MANE Select | NP_715639.2:p.Phe175Ser |