Revel Score:
ENST00000326139 (MANE Select)
0.543
ENST00000409904
0.543
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000653 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30976461C>T , CM000669.2:g.30976461C>T | GRCh38 |
| NC_000007.13:g.31016076C>T , CM000669.1:g.31016076C>T | GRCh37 |
| NC_000007.12:g.30982601C>T | NCBI36 |
| NG_021416.1:g.17441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.1007C>T MANE Select | ENSP00000320180.2:p.Pro336Leu | |
| ENST00000326139.6:c.1007C>T | ENSP00000320180.2:p.Pro336Leu | |
| ENST00000337750.9:c.*223C>T | ENSP00000338184.4:n.*223C>T | |
| ENST00000396227.6:c.*223C>T | ENSP00000379529.2:n.*223C>T | |
| ENST00000409316.5:c.306C>T | ENSP00000386602.1:p.Pro102= | |
| ENST00000409904.7:c.815C>T | ENSP00000387113.3:p.Pro272Leu | |
| ENST00000461424.5:n.583C>T | ||
| ENST00000463164.1:n.33C>T | ||
| ENST00000611037.1:c.453C>T | ENSP00000480159.1:p.Pro151= | |
| NM_000823.3:c.1007C>T | NP_000814.2:p.Pro336Leu | |
| XM_011515263.1:c.815C>T | XP_011513565.1:p.Pro272Leu | |
| NM_000823.4:c.1007C>T MANE Select | NP_000814.2:p.Pro336Leu |