COSMIC:
COSM4419116 (not active)
COSM4419117 (not active)
Revel Score:
ENST00000326840 (MANE Select)
0.177
ENST00000404023
0.177
ENST00000326857
0.177
ENST00000449482
0.177
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04815082 (NFE)
Genomes Max Group AF
0.04461241 (NFE)
Exomes Max Group AF
0.04829459 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98881541T>C , CM000665.2:g.98881541T>C | GRCh38 |
| NC_000003.11:g.98600385T>C , CM000665.1:g.98600385T>C | GRCh37 |
| NC_000003.10:g.100083075T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326840.11:c.432A>G MANE Select | ENSP00000321573.6:p.Ile144Met | |
| ENST00000326840.10:c.432A>G | ENSP00000321573.6:p.Ile144Met | |
| ENST00000326857.9:c.432A>G | ENSP00000321646.9:p.Ile144Met | |
| ENST00000449482.1:c.114A>G | ENSP00000396803.1:p.Ile38Met | |
| ENST00000469648.5:n.268+19181A>G | ||
| ENST00000486004.1:n.410A>G | ||
| NM_080927.3:c.432A>G | NP_563615.3:p.Ile144Met | |
| XM_011512419.1:c.205+19581A>G | XP_011510721.1:n.205+19581A>G | |
| XM_011512419.2:c.205+19581A>G | XP_011510721.1:n.205+19581A>G | |
| XM_024453347.1:c.114A>G | XP_024309115.1:p.Ile38Met | |
| XM_024453348.1:c.114A>G | XP_024309116.1:p.Ile38Met | |
| NM_080927.4:c.432A>G MANE Select | NP_563615.3:p.Ile144Met |