COSMIC:
COSM4985511 (not active)
Revel Score:
ENST00000215838 (MANE Select)
0.047
ENST00000423350
0.047
ENST00000405742
0.047
ENST00000407817
0.047
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1606618 (AMR)
Genomes Max Group AF
0.15945598 (AFR)
Exomes Max Group AF
0.16004893 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30610873A>G , CM000684.2:g.30610873A>G | GRCh38 |
| NC_000022.10:g.31006860A>G , CM000684.1:g.31006860A>G | GRCh37 |
| NC_000022.9:g.29336860A>G | NCBI36 |
| NG_007263.1:g.8700A>G , LRG_116:g.8700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471659.2:n.238A>G | ||
| ENST00000698263.1:c.67A>G | ENSP00000513635.1:p.Ile23Val | |
| ENST00000698264.1:n.238A>G | ||
| ENST00000698265.1:c.67A>G | ENSP00000513636.1:p.Ile23Val | |
| ENST00000698266.1:c.67A>G | ENSP00000513637.1:p.Ile23Val | |
| ENST00000698267.1:c.67A>G | ENSP00000513638.1:p.Ile23Val | |
| ENST00000698268.1:c.67A>G | ENSP00000513639.1:p.Ile23Val | |
| ENST00000698269.1:c.67A>G | ENSP00000513640.1:p.Ile23Val | |
| ENST00000698270.1:c.67A>G | ENSP00000513641.1:p.Ile23Val | |
| ENST00000698271.1:c.67A>G | ENSP00000513642.1:p.Ile23Val | |
| ENST00000698272.1:c.67A>G | ENSP00000513643.1:p.Ile23Val | |
| ENST00000698273.1:c.65-7A>G | ENSP00000513644.1:n.65-7A>G | |
| ENST00000215838.8:c.67A>G MANE Select | ENSP00000215838.3:p.Ile23Val | |
| ENST00000215838.7:c.67A>G | ENSP00000215838.3:p.Ile23Val | |
| ENST00000405742.7:c.67A>G | ENSP00000385914.3:p.Ile23Val | |
| ENST00000407817.3:c.67A>G | ENSP00000384914.3:p.Ile23Val | |
| ENST00000423350.1:n.396A>G | ||
| ENST00000450638.5:c.-9A>G | ENSP00000394184.2:n.-9A>G | |
| NM_000355.3:c.67A>G | NP_000346.2:p.Ile23Val | |
| NM_001184726.1:c.67A>G | NP_001171655.1:p.Ile23Val | |
| NM_000355.4:c.67A>G MANE Select | NP_000346.2:p.Ile23Val | |
| NM_001184726.2:c.67A>G | NP_001171655.1:p.Ile23Val |