Revel Score:
ENST00000330943 (MANE Select)
0.201
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001647 (NFE)
Exomes Max Group AF
0.00001664 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50673545T>A , CM000678.2:g.50673545T>A | GRCh38 |
| NC_000016.9:g.50707456T>A , CM000678.1:g.50707456T>A | GRCh37 |
| NC_000016.8:g.49264957T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330943.9:c.812A>T MANE Select | ENSP00000332062.4:p.Asp271Val | |
| ENST00000300590.7:c.282+2225A>T | ENSP00000300590.3:n.282+2225A>T | |
| ENST00000330943.8:c.812A>T | ENSP00000332062.4:p.Asp271Val | |
| ENST00000423026.6:c.282+2225A>T | ENSP00000388875.2:n.282+2225A>T | |
| ENST00000568993.5:c.282+2225A>T | ENSP00000454863.1:n.282+2225A>T | |
| ENST00000610485.1:c.373-53A>T | ENSP00000484863.1:n.373-53A>T | |
| NM_001144972.1:c.282+2225A>T | NP_001138444.1:n.282+2225A>T | |
| NM_153337.2:c.282+2225A>T | NP_699168.1:n.282+2225A>T | |
| NM_182854.2:c.812A>T | NP_878274.1:p.Asp271Val | |
| NM_182854.3:c.812A>T | NP_878274.1:p.Asp271Val | |
| NM_182854.4:c.812A>T MANE Select | NP_878274.1:p.Asp271Val | |
| NM_001144972.2:c.282+2225A>T | NP_001138444.1:n.282+2225A>T | |
| NM_153337.3:c.282+2225A>T | NP_699168.1:n.282+2225A>T |