Revel Score:
ENST00000438763 (MANE Select)
0.045
ENST00000452392
0.045
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814359C>T , CM000668.2:g.32814359C>T | GRCh38 |
| NC_000006.11:g.32782136C>T , CM000668.1:g.32782136C>T | GRCh37 |
| NC_000006.10:g.32890114C>T | NCBI36 |
| NG_009793.3:g.29412G>A | |
| NG_012008.1:g.7690G>A | |
| NG_009793.4:g.29412G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438763.7:c.604G>A MANE Select | ENSP00000390020.2:p.Asp202Asn | |
| ENST00000648009.1:c.604G>A | ENSP00000496848.1:p.Asp202Asn | |
| ENST00000438763.6:c.604G>A | ENSP00000390020.2:p.Asp202Asn | |
| ENST00000452392.2:c.2425G>A | ENSP00000391806.2:p.Asp809Asn | |
| ENST00000475235.1:n.641G>A | ||
| ENST00000488325.5:c.*375G>A | ENSP00000436618.1:n.*375G>A | |
| NM_002120.3:c.604G>A | NP_002111.1:p.Asp202Asn | |
| NM_002120.4:c.604G>A MANE Select | NP_002111.1:p.Asp202Asn |