Revel Score:
ENST00000376630 (MANE Select)
0.047
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30489955T>A , CM000668.2:g.30489955T>A | GRCh38 |
| NC_000006.11:g.30457732T>A , CM000668.1:g.30457732T>A | GRCh37 |
| NC_000006.10:g.30565711T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376630.5:c.294T>A MANE Select | ENSP00000365817.4:p.Asn98Lys | |
| ENST00000376630.4:c.294T>A | ENSP00000365817.4:p.Asn98Lys | |
| ENST00000484194.1:n.316T>A | ||
| ENST00000493699.1:n.444T>A | ||
| NM_005516.5:c.294T>A | NP_005507.3:p.Asn98Lys | |
| XM_017010807.1:c.417T>A | XP_016866296.1:p.Asn139Lys | |
| XM_017010808.1:c.417T>A | XP_016866297.1:p.Asn139Lys | |
| XM_017010809.2:c.294T>A | XP_016866298.1:p.Asn98Lys | |
| NM_005516.6:c.294T>A MANE Select | NP_005507.3:p.Asn98Lys |