COSMIC:
COSM4771488 (not active)
COSM4771489 (not active)
Revel Score:
ENST00000394412 (MANE Select)
0.098
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58417176 (NFE)
Genomes Max Group AF
0.57749387 (NFE)
Exomes Max Group AF
0.58432114 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89632842C>A , CM000677.2:g.89632842C>A | GRCh38 |
| NC_000015.9:g.90176073C>A , CM000677.1:g.90176073C>A | GRCh37 |
| NC_000015.8:g.87977077C>A | NCBI36 |
| NG_030338.1:g.27610G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.2996G>T | ENSP00000512678.1:p.Ser999Ile | |
| ENST00000394412.8:c.2873G>T MANE Select | ENSP00000377934.3:p.Ser958Ile | |
| ENST00000677187.1:n.547G>T | ||
| ENST00000394412.7:c.2873G>T | ENSP00000377934.3:p.Ser958Ile | |
| NM_198525.2:c.2873G>T | NP_940927.2:p.Ser958Ile | |
| XM_005254902.2:c.2873G>T | XP_005254959.1:p.Ser958Ile | |
| XM_011521531.1:c.2996G>T | XP_011519833.1:p.Ser999Ile | |
| XM_011521532.1:c.2993G>T | XP_011519834.1:p.Ser998Ile | |
| XM_011521533.1:c.2993G>T | XP_011519835.1:p.Ser998Ile | |
| XM_011521534.1:c.2996G>T | XP_011519836.1:p.Ser999Ile | |
| XM_011521535.1:c.2996G>T | XP_011519837.1:p.Ser999Ile | |
| XM_011521536.1:c.2996G>T | XP_011519838.1:p.Ser999Ile | |
| XM_011521531.2:c.2996G>T | XP_011519833.1:p.Ser999Ile | |
| NM_198525.3:c.2873G>T MANE Select | NP_940927.2:p.Ser958Ile |