Revel Score:
ENST00000401061 (MANE Select)
0.975
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025551 (SAS)
Exomes Max Group AF
0.00025981 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508282T>C , CM000663.2:g.45508282T>C | GRCh38 |
| NC_000001.10:g.45973954T>C , CM000663.1:g.45973954T>C | GRCh37 |
| NC_000001.9:g.45746541T>C | NCBI36 |
| NG_013378.1:g.13099T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.347T>C MANE Select | ENSP00000383840.4:p.Leu116Pro | |
| ENST00000401061.8:c.347T>C | ENSP00000383840.4:p.Leu116Pro | |
| ENST00000616135.1:c.176T>C | ENSP00000478859.1:p.Leu59Pro | |
| NM_015506.2:c.347T>C | NP_056321.2:p.Leu116Pro | |
| XM_005270724.3:c.152T>C | XP_005270781.1:p.Leu51Pro | |
| XM_011541204.1:c.176T>C | XP_011539506.1:p.Leu59Pro | |
| NM_001330540.1:c.176T>C | NP_001317469.1:p.Leu59Pro | |
| XM_005270724.5:c.152T>C | XP_005270781.1:p.Leu51Pro | |
| NM_015506.3:c.347T>C MANE Select | NP_056321.2:p.Leu116Pro | |
| NM_001330540.2:c.176T>C | NP_001317469.1:p.Leu59Pro |