COSMIC:
COSM3755703 (not active)
COSM3755704 (not active)
Revel Score:
ENST00000340482
0.574
ENST00000225275 (MANE Select)
0.574
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01246306 (NFE)
Genomes Max Group AF
0.0119139 (NFE)
Exomes Max Group AF
0.01245871 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58279141A>G , CM000679.2:g.58279141A>G | GRCh38 |
| NC_000017.10:g.56356502A>G , CM000679.1:g.56356502A>G | GRCh37 |
| NC_000017.9:g.53711501A>G | NCBI36 |
| NG_009629.1:g.6795T>C , LRG_84:g.6795T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.27T>C | ||
| ENST00000699291.1:c.38T>C | ENSP00000514272.1:p.Met13Thr | |
| ENST00000225275.4:c.752T>C MANE Select | ENSP00000225275.3:p.Met251Thr | |
| ENST00000225275.3:c.752T>C | ENSP00000225275.3:p.Met251Thr | |
| ENST00000581022.1:n.177T>C | ||
| NM_000250.1:c.752T>C , LRG_84t1:c.752T>C | NP_000241.1:p.Met251Thr | |
| XM_011524821.1:c.938T>C | XP_011523123.1:p.Met313Thr | |
| XM_011524822.1:c.467T>C | XP_011523124.1:p.Met156Thr | |
| XM_011524823.1:c.938T>C | XP_011523125.1:p.Met313Thr | |
| NM_000250.2:c.752T>C MANE Select | NP_000241.1:p.Met251Thr |