Revel Score:
ENST00000399402
0.289
ENST00000307363 (MANE Select)
0.289
ENST00000445488
0.289
ENST00000307377
0.289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33018510G>C , CM000665.2:g.33018510G>C | GRCh38 |
| NC_000003.11:g.33060002G>C , CM000665.1:g.33060002G>C | GRCh37 |
| NC_000003.10:g.33035006G>C | NCBI36 |
| NG_009005.1:g.83693C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1285C>G MANE Select | ENSP00000306920.4:p.Pro429Ala | |
| ENST00000307363.9:c.1285C>G | ENSP00000306920.4:p.Pro429Ala | |
| ENST00000307377.12:c.892C>G | ENSP00000305920.8:p.Pro298Ala | |
| ENST00000399402.7:c.1195C>G | ENSP00000382333.2:p.Pro399Ala | |
| ENST00000461475.5:n.384C>G | ||
| ENST00000467571.5:n.322C>G | ||
| ENST00000497796.5:n.537C>G | ||
| NM_000404.2:c.1285C>G | NP_000395.2:p.Pro429Ala | |
| NM_000404.3:c.1285C>G | NP_000395.2:p.Pro429Ala | |
| NM_001079811.1:c.1195C>G | NP_001073279.1:p.Pro399Ala | |
| NM_001079811.2:c.1195C>G | NP_001073279.1:p.Pro399Ala | |
| NM_001135602.1:c.892C>G | NP_001129074.1:p.Pro298Ala | |
| NM_001135602.2:c.892C>G | NP_001129074.1:p.Pro298Ala | |
| NM_001317040.1:c.1429C>G | NP_001303969.1:p.Pro477Ala | |
| NM_000404.4:c.1285C>G MANE Select | NP_000395.3:p.Pro429Ala | |
| NM_001079811.3:c.1195C>G | NP_001073279.2:p.Pro399Ala | |
| NM_001135602.3:c.892C>G | NP_001129074.2:p.Pro298Ala | |
| NM_001317040.2:c.1429C>G | NP_001303969.2:p.Pro477Ala | |
| NM_001393580.1:c.1285C>G | NP_001380509.1:p.Pro429Ala |