Revel Score:
ENST00000395388 (MANE Select)
0.012
ENST00000374982
0.012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443879G>A , CM000668.2:g.32443879G>A | GRCh38 |
| NC_000006.11:g.32411656G>A , CM000668.1:g.32411656G>A | GRCh37 |
| NC_000006.10:g.32519634G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.734G>A MANE Select | ENSP00000378786.2:p.Ser245Asn | |
| ENST00000374982.5:c.659G>A | ENSP00000364121.5:p.Ser220Asn | |
| ENST00000395388.6:c.734G>A | ENSP00000378786.2:p.Ser245Asn | |
| NM_019111.4:c.734G>A | NP_061984.2:p.Ser245Asn | |
| NM_019111.5:c.734G>A MANE Select | NP_061984.2:p.Ser245Asn |