Revel Score:
ENST00000304611 (MANE Select)
0.199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964462G>C , CM000668.2:g.42964462G>C | GRCh38 |
| NC_000006.11:g.42932200G>C , CM000668.1:g.42932200G>C | GRCh37 |
| NC_000006.10:g.43040178G>C | NCBI36 |
| NG_008370.1:g.19782C>G | |
| NG_008396.1:g.8701G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2816C>G MANE Select | ENSP00000303511.8:p.Pro939Arg | |
| ENST00000244546.4:c.2569C>G | ENSP00000244546.4:n.2569C>G | |
| ENST00000304611.12:c.2816C>G | ENSP00000303511.8:p.Pro939Arg | |
| NM_000287.3:c.2816C>G | NP_000278.3:p.Pro939Arg | |
| NM_001316313.1:c.2552C>G | NP_001303242.1:p.Pro851Arg | |
| NR_133009.1:n.2662C>G | ||
| XM_011514661.1:c.2732C>G | XP_011512963.1:p.Pro911Arg | |
| XM_011514661.2:c.2732C>G | XP_011512963.1:p.Pro911Arg | |
| XR_001743466.2:n.3778C>G | ||
| NM_000287.4:c.2816C>G MANE Select | NP_000278.3:p.Pro939Arg | |
| NM_001316313.2:c.2552C>G | NP_001303242.1:p.Pro851Arg | |
| NR_133009.2:n.2600C>G |