COSMIC:
COSM3999763 (not active)
Revel Score:
ENST00000417235
0.094
ENST00000219054
0.094
ENST00000536134
0.094
ENST00000396104
0.094
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21658237 (EAS)
Genomes Max Group AF
0.1908473 (EAS)
Exomes Max Group AF
0.21882623 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20483086C>T , CM000678.2:g.20483086C>T | GRCh38 |
| NC_000016.9:g.20494408C>T , CM000678.1:g.20494408C>T | GRCh37 |
| NC_000016.8:g.20401909C>T | NCBI36 |
| NG_054721.1:g.36626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573854.6:c.1538C>T MANE Select | ENSP00000459451.1:p.Ser513Leu | |
| ENST00000219054.10:c.1538C>T | ENSP00000219054.6:p.Ser513Leu | |
| ENST00000396104.2:c.1538C>T | ENSP00000379411.2:p.Ser513Leu | |
| ENST00000417235.6:c.1301C>T | ENSP00000392169.2:p.Ser434Leu | |
| ENST00000572843.5:n.1733C>T | ||
| ENST00000573854.5:c.1538C>T | ENSP00000459451.1:p.Ser513Leu | |
| ENST00000575690.5:c.1538C>T | ENSP00000460349.1:p.Ser513Leu | |
| ENST00000576119.1:n.817C>T | ||
| NM_001010845.2:c.1538C>T | NP_001010845.1:p.Ser513Leu | |
| NM_001308169.1:c.1301C>T | NP_001295098.1:p.Ser434Leu | |
| NM_001308172.1:c.1538C>T | NP_001295101.1:p.Ser513Leu | |
| NM_001308954.1:c.1538C>T | NP_001295883.1:p.Ser513Leu | |
| XR_243259.2:n.2538C>T | ||
| XM_017022923.1:c.1538C>T | XP_016878412.1:p.Ser513Leu | |
| XM_017022926.2:c.851C>T | XP_016878415.1:p.Ser284Leu | |
| XR_001751834.2:n.2747C>T | ||
| NM_001308172.2:c.1538C>T MANE Select | NP_001295101.1:p.Ser513Leu | |
| NM_001308169.2:c.1301C>T | NP_001295098.1:p.Ser434Leu | |
| NM_001308954.2:c.1538C>T | NP_001295883.1:p.Ser513Leu |