Revel Score:
ENST00000262340 (MANE Select)
0.669
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68440997C>T , CM000663.2:g.68440997C>T | GRCh38 |
| NC_000001.10:g.68906680C>T , CM000663.1:g.68906680C>T | GRCh37 |
| NC_000001.9:g.68679268C>T | NCBI36 |
| NG_008472.1:g.13963G>A | |
| NG_008472.2:g.13963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.499G>A MANE Select | ENSP00000262340.5:p.Asp167Asn | |
| ENST00000262340.5:c.499G>A | ENSP00000262340.5:p.Asp167Asn | |
| NM_000329.2:c.499G>A | NP_000320.1:p.Asp167Asn | |
| XM_017002027.1:c.223G>A | XP_016857516.1:p.Asp75Asn | |
| NM_000329.3:c.499G>A MANE Select | NP_000320.1:p.Asp167Asn |