Revel Score:
ENST00000421109
0.917
ENST00000394166 (MANE Select)
0.917
ENST00000394171
0.917
ENST00000453270
0.917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96337399C>A , CM000677.2:g.96337399C>A | GRCh38 |
| NC_000015.9:g.96880628C>A , CM000677.1:g.96880628C>A | GRCh37 |
| NC_000015.8:g.94681632C>A | NCBI36 |
| NG_016753.1:g.16472C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394166.8:c.1022C>A MANE Select | ENSP00000377721.3:p.Ser341Tyr | |
| ENST00000394166.7:c.1022C>A | ENSP00000377721.3:p.Ser341Tyr | |
| ENST00000394171.6:c.563C>A | ENSP00000377726.2:p.Ser188Tyr | |
| ENST00000421109.6:c.623C>A | ENSP00000401674.2:p.Ser208Tyr | |
| ENST00000453270.2:c.563C>A | ENSP00000389853.2:p.Ser188Tyr | |
| NM_001145155.1:c.623C>A | NP_001138627.1:p.Ser208Tyr | |
| NM_001145156.1:c.563C>A | NP_001138628.1:p.Ser188Tyr | |
| NM_001145157.1:c.563C>A | NP_001138629.1:p.Ser188Tyr | |
| NM_021005.3:c.1022C>A | NP_066285.1:p.Ser341Tyr | |
| NM_021005.4:c.1022C>A MANE Select | NP_066285.1:p.Ser341Tyr | |
| NM_001145155.2:c.623C>A | NP_001138627.1:p.Ser208Tyr | |
| NM_001145157.2:c.563C>A | NP_001138629.1:p.Ser188Tyr |