Revel Score:
ENST00000353383 (MANE Select)
0.125
ENST00000395776
0.125
ENST00000261641
0.125
ENST00000315321
0.125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17797633A>C , CM000679.2:g.17797633A>C | GRCh38 |
| NC_000017.10:g.17700947A>C , CM000679.1:g.17700947A>C | GRCh37 |
| NC_000017.9:g.17641672A>C | NCBI36 |
| NG_007101.2:g.121161A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.4685A>C MANE Select | ENSP00000323074.4:p.Gln1562Pro | |
| ENST00000640861.1:c.4349A>C | ENSP00000491773.1:p.Gln1450Pro | |
| ENST00000353383.5:c.4685A>C | ENSP00000323074.4:p.Gln1562Pro | |
| NM_030665.3:c.4685A>C | NP_109590.3:p.Gln1562Pro | |
| XM_017024025.1:c.4685A>C | XP_016879514.1:p.Gln1562Pro | |
| XM_017024026.1:c.4685A>C | XP_016879515.1:p.Gln1562Pro | |
| XM_017024027.1:c.4685A>C | XP_016879516.1:p.Gln1562Pro | |
| XM_017024028.2:c.4685A>C | XP_016879517.1:p.Gln1562Pro | |
| NM_030665.4:c.4685A>C MANE Select | NP_109590.3:p.Gln1562Pro |