Revel Score:
ENST00000297784 (MANE Select)
0.279
ENST00000340019
0.279
ENST00000396235
0.279
ENST00000537917
0.279
ENST00000538054
0.279
ENST00000542143
0.279
ENST00000396237
0.279
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003078 (NFE)
Exomes Max Group AF
0.00003266 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72751938C>A , CM000671.2:g.72751938C>A | GRCh38 |
| NC_000009.11:g.75366854C>A , CM000671.1:g.75366854C>A | GRCh37 |
| NC_000009.10:g.74556674C>A | NCBI36 |
| NG_008213.1:g.235138C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.624C>A MANE Select | ENSP00000297784.6:p.Ser208Arg | |
| ENST00000644967.1:c.186C>A | ENSP00000496159.1:p.Ser62Arg | |
| ENST00000645053.1:c.186C>A | ENSP00000493838.1:p.Ser62Arg | |
| ENST00000645208.2:c.624C>A | ENSP00000494684.1:p.Ser208Arg | |
| ENST00000645773.1:c.498C>A | ENSP00000493698.1:p.Ser166Arg | |
| ENST00000645787.1:n.664C>A | ||
| ENST00000646619.1:c.186C>A | ENSP00000493726.1:p.Ser62Arg | |
| ENST00000650689.1:n.922C>A | ||
| ENST00000651183.1:c.186C>A | ENSP00000498723.1:p.Ser62Arg | |
| ENST00000297784.9:c.624C>A | ENSP00000297784.5:p.Ser208Arg | |
| ENST00000340019.4:c.624C>A | ENSP00000341433.3:p.Ser208Arg | |
| NM_138691.2:c.624C>A | NP_619636.2:p.Ser208Arg | |
| XM_011518213.1:c.1212C>A | XP_011516515.1:p.Ser404Arg | |
| XM_017014256.1:c.627C>A | XP_016869745.1:p.Ser209Arg | |
| NM_138691.3:c.624C>A MANE Select | NP_619636.2:p.Ser208Arg |