COSMIC:
COSM147960 (not active)
COSM4382330 (not active)
Revel Score:
ENST00000394655
0.163
ENST00000394660
0.163
ENST00000355368
0.163
ENST00000302987
0.163
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30494185 (SAS)
Genomes Max Group AF
0.2910763 (SAS)
Exomes Max Group AF
0.30507801 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81285798C>T , CM000677.2:g.81285798C>T | GRCh38 |
| NC_000015.9:g.81578139C>T , CM000677.1:g.81578139C>T | GRCh37 |
| NC_000015.8:g.79365194C>T | NCBI36 |
| NG_029933.1:g.93921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302987.10:c.1441C>T | ENSP00000302935.5:p.Pro481Ser | |
| ENST00000706926.1:c.1300C>T | ENSP00000516648.1:p.Pro434Ser | |
| ENST00000302987.9:c.1441C>T | ENSP00000302935.5:p.Pro481Ser | |
| ENST00000683961.1:c.1300C>T MANE Select | ENSP00000508085.1:p.Pro434Ser | |
| ENST00000302987.8:c.1300C>T | ENSP00000302935.4:p.Pro434Ser | |
| ENST00000360547.9:c.1300C>T | ENSP00000456972.1:p.Pro434Ser | |
| ENST00000394660.6:c.1300C>T | ENSP00000378155.2:p.Pro434Ser | |
| ENST00000559383.5:c.1300C>T | ENSP00000453250.1:p.Pro434Ser | |
| ENST00000560115.5:c.449C>T | ||
| ENST00000560241.5:c.1300C>T | ENSP00000452738.1:p.Pro434Ser | |
| NM_001172128.1:c.1300C>T | NP_001165599.1:p.Pro434Ser | |
| NM_172217.3:c.1300C>T | NP_757366.2:p.Pro434Ser | |
| XM_005254342.2:c.1441C>T | XP_005254399.1:p.Pro481Ser | |
| XM_011521518.1:c.1300C>T | XP_011519820.1:p.Pro434Ser | |
| XM_011521519.1:c.1300C>T | XP_011519821.1:p.Pro434Ser | |
| XM_011521520.1:c.1300C>T | XP_011519822.1:p.Pro434Ser | |
| XR_931805.1:n.1401C>T | ||
| NM_001352684.1:c.-720C>T | NP_001339613.1:n.-720C>T | |
| NM_001352685.1:c.790C>T | NP_001339614.1:p.Pro264Ser | |
| NM_001352686.1:c.1453C>T | NP_001339615.1:p.Pro485Ser | |
| NM_172217.4:c.1300C>T | NP_757366.2:p.Pro434Ser | |
| NR_148035.1:n.1676C>T | ||
| NM_001172128.2:c.1300C>T | NP_001165599.1:p.Pro434Ser | |
| NM_001352684.2:c.-720C>T | NP_001339613.1:n.-720C>T | |
| NM_001352685.2:c.790C>T | NP_001339614.1:p.Pro264Ser | |
| NM_172217.5:c.1300C>T MANE Select | NP_757366.2:p.Pro434Ser | |
| NR_148035.2:n.1675C>T | ||
| NM_001352686.2:c.1453C>T | NP_001339615.1:p.Pro485Ser |