Revel Score:
ENST00000299314 (MANE Select)
0.765
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001377 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761615G>A , CM000674.2:g.101761615G>A | GRCh38 |
| NC_000012.11:g.102155393G>A , CM000674.1:g.102155393G>A | GRCh37 |
| NC_000012.10:g.100679524G>A | NCBI36 |
| NG_021243.1:g.74253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2864C>T MANE Select | ENSP00000299314.7:p.Ala955Val | |
| ENST00000299314.11:c.2864C>T | ENSP00000299314.7:p.Ala955Val | |
| NM_024312.4:c.2864C>T | NP_077288.2:p.Ala955Val | |
| XM_006719593.2:c.2864C>T | XP_006719656.1:p.Ala955Val | |
| XM_011538731.1:c.2783C>T | XP_011537033.1:p.Ala928Val | |
| XM_006719593.3:c.2864C>T | XP_006719656.1:p.Ala955Val | |
| XM_011538731.2:c.2783C>T | XP_011537033.1:p.Ala928Val | |
| XM_017019961.1:c.2648C>T | XP_016875450.1:p.Ala883Val | |
| XM_017019962.2:c.1637C>T | XP_016875451.1:p.Ala546Val | |
| NM_024312.5:c.2864C>T MANE Select | NP_077288.2:p.Ala955Val |