Revel Score:
ENST00000249373 (MANE Select)
0.313
gnomAD v4:
Joint Max Group AF
0.00000885 (NFE)
Exomes Max Group AF
0.00000939 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129212026C>A , CM000669.2:g.129212026C>A | GRCh38 |
| NC_000007.13:g.128851867C>A , CM000669.1:g.128851867C>A | GRCh37 |
| NC_000007.12:g.128639103C>A | NCBI36 |
| NG_023340.1:g.28155C>A | |
| NG_023340.2:g.28155C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.1939C>A MANE Select | ENSP00000249373.3:p.Pro647Thr | |
| ENST00000655644.1:c.*1694C>A | ENSP00000499377.1:n.*1694C>A | |
| ENST00000249373.7:c.1939C>A | ENSP00000249373.3:p.Pro647Thr | |
| ENST00000475779.1:c.456C>A | ENSP00000420749.1:n.456C>A | |
| NM_005631.4:c.1939C>A | NP_005622.1:p.Pro647Thr | |
| XM_011516522.1:c.1549C>A | XP_011514824.1:p.Pro517Thr | |
| XM_024446891.1:c.1549C>A | XP_024302659.1:p.Pro517Thr | |
| NM_005631.5:c.1939C>A MANE Select | NP_005622.1:p.Pro647Thr |