COSMIC:
COSM1131120 (not active)
Revel Score:
ENST00000264318 (MANE Select)
0.119
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36904979 (NFE)
Genomes Max Group AF
0.36114868 (NFE)
Exomes Max Group AF
0.36932845 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993349G>T , CM000666.2:g.46993349G>T | GRCh38 |
| NC_000004.11:g.46995366G>T , CM000666.1:g.46995366G>T | GRCh37 |
| NC_000004.10:g.46690123G>T | NCBI36 |
| NG_011809.1:g.5215C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.76C>A MANE Select | ENSP00000264318.3:p.Leu26Met | |
| ENST00000264318.3:c.76C>A | ENSP00000264318.3:p.Leu26Met | |
| ENST00000502874.1:c.76C>A | ENSP00000424386.1:p.Leu26Met | |
| ENST00000508560.5:c.18+58C>A | ENSP00000425445.1:n.18+58C>A | |
| ENST00000509316.1:n.200C>A | ||
| ENST00000511523.5:c.18+58C>A | ENSP00000422152.1:n.18+58C>A | |
| NM_000809.3:c.76C>A | NP_000800.2:p.Leu26Met | |
| NM_001204266.1:c.29+58C>A | NP_001191195.1:n.29+58C>A | |
| NM_001204267.1:c.29+58C>A | NP_001191196.1:n.29+58C>A | |
| XM_011513677.1:c.76C>A | XP_011511979.1:p.Leu26Met | |
| NM_000809.4:c.76C>A MANE Select | NP_000800.2:p.Leu26Met | |
| NM_001204266.2:c.29+58C>A | NP_001191195.1:n.29+58C>A | |
| NM_001204267.2:c.29+58C>A | NP_001191196.1:n.29+58C>A |