COSMIC:
COSM150515 (not active)
Revel Score:
ENST00000251809
0.041
ENST00000388798 (MANE Select)
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70538 (AMR)
Genomes Max Group AF
0.69414773 (AFR)
Exomes Max Group AF
0.70933684 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100240452T>C , CM000670.2:g.100240452T>C | GRCh38 |
| NC_000008.10:g.101252680T>C , CM000670.1:g.101252680T>C | GRCh37 |
| NC_000008.9:g.101321856T>C | NCBI36 |
| NG_033834.1:g.87418T>C | |
| NG_033834.2:g.87418T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.2330T>C MANE Select | ENSP00000373450.3:p.Met777Thr | |
| ENST00000251809.4:c.2330T>C | ENSP00000251809.3:p.Met777Thr | |
| ENST00000388798.6:c.2330T>C | ENSP00000373450.2:p.Met777Thr | |
| ENST00000519424.1:n.582T>C | ||
| NM_003114.4:c.2330T>C | NP_003105.2:p.Met777Thr | |
| NM_172218.2:c.2330T>C | NP_757367.1:p.Met777Thr | |
| XM_011517240.1:c.2177T>C | XP_011515542.1:p.Met726Thr | |
| XM_011517241.1:c.2165T>C | XP_011515543.1:p.Met722Thr | |
| XM_011517242.1:c.2330T>C | XP_011515544.1:p.Met777Thr | |
| XM_011517243.1:c.2330T>C | XP_011515545.1:p.Met777Thr | |
| XR_928449.1:n.88+1400A>G | ||
| XM_011517240.2:c.2177T>C | XP_011515542.1:p.Met726Thr | |
| XM_011517241.2:c.2165T>C | XP_011515543.1:p.Met722Thr | |
| XM_011517242.2:c.2330T>C | XP_011515544.1:p.Met777Thr | |
| XM_011517243.2:c.2330T>C | XP_011515545.1:p.Met777Thr | |
| XM_017013754.1:c.2435T>C | XP_016869243.1:p.Met812Thr | |
| XM_017013755.1:c.1994T>C | XP_016869244.1:p.Met665Thr | |
| XR_001745580.1:n.2289T>C | ||
| XR_001745581.1:n.2122T>C | ||
| XR_001745582.1:n.2316T>C | ||
| XR_928449.3:n.86+1400A>G | ||
| NM_001374321.1:c.2330T>C | NP_001361250.1:p.Met777Thr | |
| NM_003114.5:c.2330T>C MANE Select | NP_003105.2:p.Met777Thr | |
| NM_172218.3:c.2330T>C | NP_757367.1:p.Met777Thr |