Revel Score:
ENST00000372389
0.692
ENST00000372344
0.692
ENST00000304004
0.692
ENST00000423780
0.449
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43517324C>T , CM000668.2:g.43517324C>T | GRCh38 |
| NC_000006.11:g.43485062C>T , CM000668.1:g.43485062C>T | GRCh37 |
| NC_000006.10:g.43593040C>T | NCBI36 |
| NG_028283.1:g.5286C>T | |
| NG_028283.3:g.12623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.88C>T | ENSP00000496683.1:p.Pro30Ser | |
| ENST00000642195.1:c.88C>T MANE Select | ENSP00000496044.1:p.Pro30Ser | |
| ENST00000643341.1:c.88C>T | ENSP00000496018.1:p.Pro30Ser | |
| ENST00000643799.1:c.88C>T | ENSP00000494529.1:p.Pro30Ser | |
| ENST00000645141.1:c.88C>T | ENSP00000496755.1:p.Pro30Ser | |
| ENST00000646188.1:c.-78C>T | ENSP00000496001.1:n.-78C>T | |
| ENST00000646433.1:c.88C>T | ENSP00000494368.1:p.Pro30Ser | |
| ENST00000646700.1:c.88C>T | ENSP00000495521.1:p.Pro30Ser | |
| ENST00000304004.7:c.88C>T | ENSP00000307212.3:p.Pro30Ser | |
| ENST00000372344.6:c.88C>T | ENSP00000361419.2:p.Pro30Ser | |
| ENST00000372389.7:c.88C>T | ENSP00000361465.3:p.Pro30Ser | |
| ENST00000423780.1:c.86C>T | ||
| ENST00000428025.6:c.-78C>T | ENSP00000395401.2:n.-78C>T | |
| ENST00000455605.2:n.65C>T | ||
| ENST00000481352.6:n.144C>T | ||
| ENST00000488601.6:n.100C>T | ||
| ENST00000512472.5:n.115C>T | ||
| NM_203290.2:c.88C>T | NP_976035.1:p.Pro30Ser | |
| XM_005249491.1:c.88C>T | XP_005249548.1:p.Pro30Ser | |
| XM_011515000.1:c.88C>T | XP_011513302.1:p.Pro30Ser | |
| NM_001318876.1:c.88C>T | NP_001305805.1:p.Pro30Ser | |
| NM_001363658.1:c.88C>T | NP_001350587.1:p.Pro30Ser | |
| NM_203290.3:c.88C>T | NP_976035.1:p.Pro30Ser | |
| NM_203290.4:c.88C>T MANE Select | NP_976035.1:p.Pro30Ser | |
| NM_001363658.2:c.88C>T | NP_001350587.1:p.Pro30Ser | |
| NM_001318876.2:c.88C>T | NP_001305805.1:p.Pro30Ser |