ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001328 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Revel Score:
ENST00000205402 (MANE Select)
0.977
ENST00000417551
0.977
ENST00000537148
0.977
ENST00000440410
0.977
ENST00000437604
0.977
ENST00000539590
0.977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107919098C>T , CM000669.2:g.107919098C>T | GRCh38 |
| NC_000007.13:g.107559543C>T , CM000669.1:g.107559543C>T | GRCh37 |
| NC_000007.12:g.107346779C>T | NCBI36 |
| NG_008045.1:g.32958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1463C>T MANE Select | ENSP00000205402.3:p.Pro488Leu | |
| ENST00000205402.9:c.1463C>T | ENSP00000205402.3:p.Pro488Leu | |
| ENST00000415325.5:c.*1137C>T | ENSP00000402593.1:n.*1137C>T | |
| ENST00000417551.5:c.1463C>T | ENSP00000390667.1:p.Pro488Leu | |
| ENST00000437604.6:c.1319C>T | ENSP00000387542.2:p.Pro440Leu | |
| ENST00000440410.5:c.1394C>T | ENSP00000417016.1:p.Pro465Leu | |
| NM_000108.4:c.1463C>T | NP_000099.2:p.Pro488Leu | |
| NM_001289750.1:c.1166C>T | NP_001276679.1:p.Pro389Leu | |
| NM_001289751.1:c.1394C>T | NP_001276680.1:p.Pro465Leu | |
| NM_001289752.1:c.1319C>T | NP_001276681.1:p.Pro440Leu | |
| NM_000108.5:c.1463C>T MANE Select | NP_000099.2:p.Pro488Leu |