COSMIC:
COSM4158708 (not active)
Revel Score:
ENST00000508393
0.017
ENST00000265512 (MANE Select)
0.017
ENST00000423445
0.017
ENST00000505590
0.017
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99050226 (EAS)
Genomes Max Group AF
0.97515661 (EAS)
Exomes Max Group AF
0.99006053 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99127263T>C , CM000666.2:g.99127263T>C | GRCh38 |
| NC_000004.11:g.100048414T>C , CM000666.1:g.100048414T>C | GRCh37 |
| NC_000004.10:g.100267437T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265512.12:c.925A>G MANE Select | ENSP00000265512.7:p.Ile309Val | |
| ENST00000265512.11:c.925A>G | ENSP00000265512.7:p.Ile309Val | |
| ENST00000505590.5:c.982A>G | ENSP00000425416.1:p.Ile328Val | |
| ENST00000506705.5:c.*899A>G | ENSP00000426667.1:n.*899A>G | |
| ENST00000508393.5:c.982A>G | ENSP00000424630.1:p.Ile328Val | |
| ENST00000509471.5:c.334-531A>G | ENSP00000424583.1:n.334-531A>G | |
| ENST00000629236.2:c.925A>G | ENSP00000486450.1:p.Ile309Val | |
| NM_000670.3:c.925A>G | NP_000661.2:p.Ile309Val | |
| NM_000670.4:c.925A>G | NP_000661.2:p.Ile309Val | |
| NM_001306171.1:c.982A>G | NP_001293100.1:p.Ile328Val | |
| NM_001306172.1:c.982A>G | NP_001293101.1:p.Ile328Val | |
| NR_037884.1:n.429-6292T>C | ||
| XR_938685.1:n.1153A>G | ||
| XR_938686.1:n.1144A>G | ||
| XR_938687.1:n.1017A>G | ||
| NM_000670.5:c.925A>G MANE Select | NP_000661.2:p.Ile309Val | |
| NM_001306171.2:c.982A>G | NP_001293100.1:p.Ile328Val | |
| NM_001306172.2:c.982A>G | NP_001293101.1:p.Ile328Val |