COSMIC:
COSM5617875 (not active)
Revel Score:
ENST00000310473
0.213
ENST00000536983
0.213
ENST00000544615
0.213
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45572953 (AMR)
Genomes Max Group AF
0.44848333 (AFR)
Exomes Max Group AF
0.45836002 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73978059G>A , CM000673.2:g.73978059G>A | GRCh38 |
| NC_000011.9:g.73689104G>A , CM000673.1:g.73689104G>A | GRCh37 |
| NC_000011.8:g.73366752G>A | NCBI36 |
| NG_011478.1:g.9786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310473.9:c.164C>T | ENSP00000312029.3:p.Ala55Val | |
| ENST00000663595.2:c.164C>T MANE Select | ENSP00000499695.1:p.Ala55Val | |
| ENST00000310473.7:c.164C>T | ENSP00000312029.3:p.Ala55Val | |
| ENST00000536983.5:c.164C>T | ENSP00000441147.1:p.Ala55Val | |
| ENST00000544615.5:c.83C>T | ENSP00000439951.1:p.Ala28Val | |
| NM_003355.2:c.164C>T | NP_003346.2:p.Ala55Val | |
| XM_024448674.1:c.167C>T | XP_024304442.1:p.Ala56Val | |
| NM_001381943.1:c.164C>T | NP_001368872.1:p.Ala55Val | |
| NM_001381944.1:c.164C>T | NP_001368873.1:p.Ala55Val | |
| NM_001381945.1:c.164C>T | NP_001368874.1:p.Ala55Val | |
| NM_001381947.1:c.164C>T | NP_001368876.1:p.Ala55Val | |
| NM_001381948.1:c.164C>T | NP_001368877.1:p.Ala55Val | |
| NM_001381949.1:c.164C>T | NP_001368878.1:p.Ala55Val | |
| NM_001381950.1:c.164C>T | NP_001368879.1:p.Ala55Val | |
| NM_003355.3:c.164C>T MANE Select | NP_003346.2:p.Ala55Val |