Revel Score:
ENST00000388996 (MANE Select)
0.828
ENST00000521134
0.828
ENST00000519445
0.828
ENST00000542679
0.828
ENST00000423790
0.828
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00324888 (NFE)
Genomes Max Group AF
0.00436998 (AMR)
Exomes Max Group AF
0.0032265 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132134369G>A , CM000670.2:g.132134369G>A | GRCh38 |
| NC_000008.10:g.133146616G>A , CM000670.1:g.133146616G>A | GRCh37 |
| NC_000008.9:g.133215798G>A | NCBI36 |
| NG_008854.2:g.351389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.1720C>T MANE Select | ENSP00000373648.3:p.Pro574Ser | |
| ENST00000521134.6:c.1360C>T | ENSP00000429799.1:p.Pro454Ser | |
| ENST00000638588.1:c.1393C>T | ENSP00000491940.1:p.Pro465Ser | |
| ENST00000639496.1:c.*344C>T | ENSP00000491165.1:n.*344C>T | |
| ENST00000388996.8:c.1720C>T | ENSP00000373648.3:p.Pro574Ser | |
| ENST00000519445.5:c.1720C>T | ENSP00000428790.1:p.Pro574Ser | |
| ENST00000519589.1:n.2448C>T | ||
| ENST00000521134.5:c.1360C>T | ENSP00000429799.1:p.Pro454Ser | |
| ENST00000621976.1:c.1357C>T | ENSP00000482510.1:p.Pro453Ser | |
| NM_001204824.1:c.1360C>T | NP_001191753.1:p.Pro454Ser | |
| NM_004519.3:c.1720C>T | NP_004510.1:p.Pro574Ser | |
| XM_005250914.2:c.475C>T | XP_005250971.1:p.Pro159Ser | |
| XM_006716555.2:c.1012C>T | XP_006716618.1:p.Pro338Ser | |
| XM_011517026.1:c.1360C>T | XP_011515328.1:p.Pro454Ser | |
| XM_005250914.3:c.475C>T | XP_005250971.1:p.Pro159Ser | |
| XM_006716555.3:c.1012C>T | XP_006716618.1:p.Pro338Ser | |
| XM_011517026.2:c.1360C>T | XP_011515328.1:p.Pro454Ser | |
| XM_017013400.1:c.1498C>T | XP_016868889.1:p.Pro500Ser | |
| NM_004519.4:c.1720C>T MANE Select | NP_004510.1:p.Pro574Ser | |
| NM_001204824.2:c.1360C>T | NP_001191753.1:p.Pro454Ser |