Revel Score:
ENST00000433777
0.447
ENST00000227667 (MANE Select)
0.447
ENST00000375345
0.447
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830844G>T , CM000673.2:g.116830844G>T | GRCh38 |
| NC_000011.9:g.116701560G>T , CM000673.1:g.116701560G>T | GRCh37 |
| NC_000011.8:g.116206770G>T | NCBI36 |
| NG_008949.1:g.5937G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.127G>T MANE Select | ENSP00000227667.2:p.Ala43Ser | |
| ENST00000227667.7:c.127G>T | ENSP00000227667.2:p.Ala43Ser | |
| ENST00000375345.3:c.181G>T | ENSP00000364494.1:p.Ala61Ser | |
| ENST00000433777.5:c.127G>T | ENSP00000410614.1:p.Ala43Ser | |
| ENST00000470144.1:n.159G>T | ||
| ENST00000630701.1:c.181G>T | ENSP00000486182.1:p.Ala61Ser | |
| NM_000040.1:c.127G>T | NP_000031.1:p.Ala43Ser | |
| NM_000040.2:c.127G>T | NP_000031.1:p.Ala43Ser | |
| NM_000040.3:c.127G>T MANE Select | NP_000031.1:p.Ala43Ser |