Revel Score:
ENST00000246337 (MANE Select)
0.791
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45014976C>A , CM000663.2:g.45014976C>A | GRCh38 |
| NC_000001.10:g.45480648C>A , CM000663.1:g.45480648C>A | GRCh37 |
| NC_000001.9:g.45253235C>A | NCBI36 |
| NG_007122.2:g.7819C>A | |
| NG_033058.1:g.1380G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.912C>A MANE Select | ENSP00000246337.4:p.Asn304Lys | |
| ENST00000491773.6:c.669C>A | ENSP00000498551.1:p.Asn223Lys | |
| ENST00000636293.1:c.774C>A | ENSP00000490710.1:p.Asn258Lys | |
| ENST00000636836.1:c.875+140C>A | ENSP00000490594.1:n.875+140C>A | |
| ENST00000651476.1:c.807C>A | ENSP00000498668.1:p.Asn269Lys | |
| ENST00000652165.1:c.669C>A | ENSP00000498295.1:p.Asn223Lys | |
| ENST00000652287.1:c.849C>A | ENSP00000498413.1:p.Asn283Lys | |
| ENST00000652514.1:c.873C>A | ENSP00000498635.1:n.873C>A | |
| ENST00000246337.8:c.912C>A | ENSP00000246337.4:p.Asn304Lys | |
| ENST00000465678.1:n.327C>A | ||
| ENST00000466193.1:n.438C>A | ||
| ENST00000472254.1:n.665C>A | ||
| ENST00000494399.5:n.1579C>A | ||
| NM_000374.4:c.912C>A | NP_000365.3:p.Asn304Lys | |
| NR_036510.1:n.1095C>A | ||
| XM_005271169.1:c.696C>A | XP_005271226.1:p.Asn232Lys | |
| XM_005271170.1:c.696C>A | XP_005271227.1:p.Asn232Lys | |
| XM_011542080.1:c.849C>A | XP_011540382.1:p.Asn283Lys | |
| XM_011542081.1:c.744C>A | XP_011540383.1:p.Asn248Lys | |
| NM_000374.5:c.912C>A MANE Select | NP_000365.3:p.Asn304Lys | |
| NR_158184.1:n.993C>A | ||
| NR_158185.1:n.943C>A | ||
| NR_036510.2:n.974C>A |