COSMIC:
COSM3754293 (not active)
COSM3754294 (not active)
Revel Score:
ENST00000346991
0.133
ENST00000260369
0.133
ENST00000399668 (MANE Select)
0.133
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48755331 (SAS)
Genomes Max Group AF
0.44367976 (SAS)
Exomes Max Group AF
0.48921892 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40621979T>C , CM000677.2:g.40621979T>C | GRCh38 |
| NC_000015.9:g.40914177T>C , CM000677.1:g.40914177T>C | GRCh37 |
| NC_000015.8:g.38701469T>C | NCBI36 |
| NG_033114.1:g.32731T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.1715T>C MANE Select | ENSP00000382576.3:p.Met572Thr | |
| ENST00000346991.9:c.1793T>C | ENSP00000335463.6:p.Met598Thr | |
| ENST00000399668.6:c.1715T>C | ENSP00000382576.2:p.Met572Thr | |
| ENST00000527044.5:c.1715T>C | ENSP00000432654.2:p.Met572Thr | |
| ENST00000533001.1:n.1860T>C | ||
| ENST00000534204.1:c.116-7345T>C | ENSP00000453857.1:n.116-7345T>C | |
| ENST00000614337.4:n.2031T>C | ||
| NM_144508.4:c.1715T>C | NP_653091.3:p.Met572Thr | |
| NM_170589.4:c.1793T>C | NP_733468.3:p.Met598Thr | |
| XM_011521816.1:c.1391T>C | XP_011520118.1:p.Met464Thr | |
| XM_011521817.1:c.1715T>C | XP_011520119.1:p.Met572Thr | |
| XM_017022432.1:c.1391T>C | XP_016877921.1:p.Met464Thr | |
| NM_144508.5:c.1715T>C MANE Select | NP_653091.3:p.Met572Thr | |
| NM_170589.5:c.1793T>C | NP_733468.3:p.Met598Thr |