Revel Score:
ENST00000374552 (MANE Select)
0.726
ENST00000374553
0.726
ENST00000524573
0.726
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035478G>T , CM000685.2:g.70035478G>T | GRCh38 |
| NC_000023.10:g.69255328G>T , CM000685.1:g.69255328G>T | GRCh37 |
| NC_000023.9:g.69172053G>T | NCBI36 |
| NG_009809.1:g.424418G>T | |
| NG_009809.2:g.424412G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.1045G>T MANE Select | ENSP00000363680.4:p.Ala349Ser | |
| ENST00000374552.8:c.1045G>T | ENSP00000363680.4:p.Ala349Ser | |
| ENST00000374553.6:c.1039G>T | ENSP00000363681.2:p.Ala347Ser | |
| ENST00000524573.5:c.1030G>T | ENSP00000432585.1:p.Ala344Ser | |
| ENST00000616899.1:c.649G>T | ENSP00000481963.1:p.Ala217Ser | |
| NM_001005609.1:c.1039G>T | NP_001005609.1:p.Ala347Ser | |
| NM_001005612.2:c.1030G>T | NP_001005612.2:p.Ala344Ser | |
| NM_001399.4:c.1045G>T | NP_001390.1:p.Ala349Ser | |
| XM_006724630.2:c.1036G>T | XP_006724693.1:p.Ala346Ser | |
| XM_017029336.1:c.1003G>T | XP_016884825.1:p.Ala335Ser | |
| NM_001399.5:c.1045G>T MANE Select | NP_001390.1:p.Ala349Ser | |
| NM_001005609.2:c.1039G>T | NP_001005609.1:p.Ala347Ser | |
| NM_001005612.3:c.1030G>T | NP_001005612.2:p.Ala344Ser |