COSMIC:
COSM4986182 (not active)
Revel Score:
ENST00000356956 (MANE Select)
0.178
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22591464 (EAS)
Genomes Max Group AF
0.21159458 (EAS)
Exomes Max Group AF
0.22663315 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160027292C>G , CM000668.2:g.160027292C>G | GRCh38 |
| NC_000006.11:g.160448324C>G , CM000668.1:g.160448324C>G | GRCh37 |
| NC_000006.10:g.160368314C>G | NCBI36 |
| NG_011785.3:g.63194C>G | |
| NG_011785.4:g.63194C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356956.6:c.754C>G MANE Select | ENSP00000349437.1:p.Leu252Val | |
| ENST00000676781.1:c.754C>G | ENSP00000504419.1:p.Leu252Val | |
| ENST00000677704.1:c.754C>G | ENSP00000503314.1:p.Leu252Val | |
| ENST00000356956.5:c.754C>G | ENSP00000349437.1:p.Leu252Val | |
| NM_000876.2:c.754C>G | NP_000867.2:p.Leu252Val | |
| XR_942419.1:n.769C>G | ||
| NM_000876.3:c.754C>G | NP_000867.2:p.Leu252Val | |
| NM_000876.4:c.754C>G MANE Select | NP_000867.3:p.Leu252Val |