Revel Score:
ENST00000345365 (MANE Select)
0.389
ENST00000394589
0.389
ENST00000335858
0.389
ENST00000360276
0.389
ENST00000345766
0.389
ENST00000418935
0.389
ENST00000357906
0.389
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35119613T>C , CM000679.2:g.35119613T>C | GRCh38 |
| NC_000017.10:g.33446632T>C , CM000679.1:g.33446632T>C | GRCh37 |
| NC_000017.9:g.30470745T>C | NCBI36 |
| NG_031858.1:g.5257A>G , LRG_516:g.5257A>G | |
| NG_054719.1:g.3035T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.1A>G | ENSP00000468273.3:p.Met1Val | |
| ENST00000587405.6:c.-95+1678A>G | ENSP00000466478.2:n.-95+1678A>G | |
| ENST00000590016.6:c.1A>G | ENSP00000466399.1:p.Met1Val | |
| ENST00000592577.6:c.-276+87A>G | ENSP00000466839.2:n.-276+87A>G | |
| ENST00000345365.11:c.1A>G MANE Select | ENSP00000338790.6:p.Met1Val | |
| ENST00000335858.11:c.1A>G | ENSP00000338408.6:p.Met1Val | |
| ENST00000345365.10:c.1A>G | ENSP00000338790.6:p.Met1Val | |
| ENST00000394589.8:c.1A>G | ENSP00000378090.4:p.Met1Val | |
| ENST00000415064.6:n.233-441A>G | ||
| ENST00000460118.6:c.-351A>G | ENSP00000464356.2:n.-351A>G | |
| ENST00000585947.5:n.159+1678A>G | ||
| ENST00000585982.5:n.178-441A>G | ||
| ENST00000586044.5:c.1A>G | ENSP00000465584.1:p.Met1Val | |
| ENST00000586210.5:c.1A>G | ENSP00000465612.1:p.Met1Val | |
| ENST00000587405.5:c.-95+1678A>G | ENSP00000466478.1:n.-95+1678A>G | |
| ENST00000587977.5:c.1A>G | ENSP00000466587.1:p.Met1Val | |
| ENST00000587982.5:n.191+1678A>G | ||
| ENST00000588372.5:c.-95+1678A>G | ENSP00000468764.1:n.-95+1678A>G | |
| ENST00000588594.5:c.1A>G | ENSP00000465366.1:p.Met1Val | |
| ENST00000589506.1:n.212A>G | ||
| ENST00000590016.5:c.1A>G | ENSP00000466399.1:p.Met1Val | |
| ENST00000591723.5:c.-134+1678A>G | ENSP00000467986.1:n.-134+1678A>G | |
| ENST00000592181.1:c.-157+434A>G | ENSP00000464799.1:n.-157+434A>G | |
| ENST00000592430.5:n.232+1678A>G | ||
| ENST00000592577.5:c.88+87A>G | ENSP00000466839.1:n.88+87A>G | |
| ENST00000593039.5:c.3+1678A>G | ENSP00000466834.1:n.3+1678A>G | |
| NM_001142571.1:c.1A>G | NP_001136043.1:p.Met1Val | |
| NM_002878.3:c.1A>G , LRG_516t1:c.1A>G | NP_002869.3:p.Met1Val | |
| NM_133629.2:c.1A>G | NP_598332.1:p.Met1Val | |
| NR_037711.1:n.257A>G | ||
| NR_037712.1:n.257A>G | ||
| NR_037714.1:n.232+1678A>G | ||
| NM_001142571.2:c.1A>G | NP_001136043.1:p.Met1Val | |
| NM_133629.3:c.1A>G | NP_598332.1:p.Met1Val | |
| NR_037711.2:n.146A>G | ||
| NR_037712.2:n.146A>G | ||
| NM_002878.4:c.1A>G MANE Select | NP_002869.3:p.Met1Val |