COSMIC:
COSM5000471 (not active)
Revel Score:
ENST00000348931 (MANE Select)
0.096
ENST00000377940
0.096
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50883803 (NFE)
Genomes Max Group AF
0.48915155 (NFE)
Exomes Max Group AF
0.50980221 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872381G>T , CM000679.2:g.39872381G>T | GRCh38 |
| NC_000017.10:g.38028634G>T , CM000679.1:g.38028634G>T | GRCh37 |
| NC_000017.9:g.35282160G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.518G>T MANE Select | ENSP00000335384.5:p.Ser173Ile | |
| ENST00000348931.8:c.518G>T | ENSP00000335384.5:p.Ser173Ile | |
| ENST00000377940.3:c.452G>T | ENSP00000367174.3:p.Ser151Ile | |
| ENST00000583811.5:c.164G>T | ENSP00000462463.1:p.Ser55Ile | |
| ENST00000584588.5:c.407-663G>T | ENSP00000462067.1:n.407-663G>T | |
| NM_198844.2:c.452G>T | NP_942141.2:p.Ser151Ile | |
| NM_199321.2:c.518G>T | NP_955353.1:p.Ser173Ile | |
| XM_011524298.1:c.518G>T | XP_011522600.1:p.Ser173Ile | |
| XR_002957959.1:n.709G>T | ||
| NM_198844.3:c.452G>T | NP_942141.2:p.Ser151Ile | |
| NM_199321.3:c.518G>T MANE Select | NP_955353.1:p.Ser173Ile |