Revel Score:
ENST00000291532
0.942
ENST00000433957
0.942
ENST00000398405
0.942
ENST00000380399
0.942
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42375852G>A , CM000683.2:g.42375852G>A | GRCh38 |
| NC_000021.8:g.43795961G>A , CM000683.1:g.43795961G>A | GRCh37 |
| NC_000021.7:g.42669030G>A | NCBI36 |
| NG_011629.1:g.25240C>T | |
| NG_011629.2:g.25240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.1211C>T | ENSP00000411013.3:p.Pro404Leu | |
| ENST00000644384.2:c.1208C>T MANE Select | ENSP00000494414.1:p.Pro403Leu | |
| ENST00000652415.1:c.1208C>T | ENSP00000498756.1:p.Pro403Leu | |
| ENST00000291532.7:c.1211C>T | ENSP00000291532.3:p.Pro404Leu | |
| ENST00000398405.5:c.1202C>T | ENSP00000381442.1:p.Pro401Leu | |
| ENST00000433957.6:c.1208C>T | ENSP00000411013.2:p.Pro403Leu | |
| ENST00000474596.5:n.1079C>T | ||
| ENST00000476848.5:n.1943C>T | ||
| ENST00000482761.1:n.1498C>T | ||
| NM_001256317.1:c.1208C>T | NP_001243246.1:p.Pro403Leu | |
| NM_024022.2:c.1211C>T | NP_076927.1:p.Pro404Leu | |
| NM_032404.2:c.830C>T | NP_115780.1:p.Pro277Leu | |
| NR_046020.1:n.2167C>T | ||
| NM_001256317.2:c.1208C>T | NP_001243246.1:p.Pro403Leu | |
| NM_024022.3:c.1211C>T | NP_076927.1:p.Pro404Leu | |
| NM_001256317.3:c.1208C>T MANE Select | NP_001243246.1:p.Pro403Leu | |
| NM_024022.4:c.1211C>T | NP_076927.1:p.Pro404Leu | |
| NM_032404.3:c.830C>T | NP_115780.1:p.Pro277Leu |