COSMIC:
COSM3763359 (not active)
Revel Score:
ENST00000025008 (MANE Select)
0.083
ENST00000435644
0.083
ENST00000539297
0.083
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81222182 (EAS)
Genomes Max Group AF
0.8073735 (EAS)
Exomes Max Group AF
0.81063392 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.52674146A>G , CM000670.2:g.52674146A>G | GRCh38 |
| NC_000008.10:g.53586706A>G , CM000670.1:g.53586706A>G | GRCh37 |
| NC_000008.9:g.53749259A>G | NCBI36 |
| NG_015833.1:g.45321T>C | |
| NG_015833.2:g.45321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000025008.10:c.701T>C MANE Select | ENSP00000025008.5:p.Met234Thr | |
| ENST00000025008.9:c.701T>C | ENSP00000025008.5:p.Met234Thr | |
| ENST00000435644.6:c.701T>C | ENSP00000396067.2:p.Met234Thr | |
| ENST00000521611.1:n.385+12800T>C | ||
| NM_001083617.1:c.701T>C | NP_001077086.1:p.Met234Thr | |
| NM_014781.4:c.701T>C | NP_055596.3:p.Met234Thr | |
| XM_011517643.1:c.701T>C | XP_011515945.1:p.Met234Thr | |
| XM_011517644.1:c.701T>C | XP_011515946.1:p.Met234Thr | |
| XM_011517645.1:c.701T>C | XP_011515947.1:p.Met234Thr | |
| XM_011517646.1:c.545T>C | XP_011515948.1:p.Met182Thr | |
| XM_011517647.1:c.701T>C | XP_011515949.1:p.Met234Thr | |
| XM_011517648.1:c.701T>C | XP_011515950.1:p.Met234Thr | |
| XM_011517649.1:c.701T>C | XP_011515951.1:p.Met234Thr | |
| XR_928826.1:n.1259T>C | ||
| XM_011517643.2:c.701T>C | XP_011515945.1:p.Met234Thr | |
| XM_011517644.3:c.701T>C | XP_011515946.1:p.Met234Thr | |
| XM_011517645.2:c.701T>C | XP_011515947.1:p.Met234Thr | |
| XM_011517646.3:c.545T>C | XP_011515948.1:p.Met182Thr | |
| XM_011517647.3:c.701T>C | XP_011515949.1:p.Met234Thr | |
| XM_011517649.3:c.701T>C | XP_011515951.1:p.Met234Thr | |
| XM_017014103.2:c.701T>C | XP_016869592.1:p.Met234Thr | |
| XM_017014104.1:c.701T>C | XP_016869593.1:p.Met234Thr | |
| XM_017014105.2:c.701T>C | XP_016869594.1:p.Met234Thr | |
| XM_017014106.2:c.701T>C | XP_016869595.1:p.Met234Thr | |
| XM_017014107.2:c.701T>C | XP_016869596.1:p.Met234Thr | |
| XM_017014108.2:c.701T>C | XP_016869597.1:p.Met234Thr | |
| XM_017014109.1:c.545T>C | XP_016869598.1:p.Met182Thr | |
| XM_017014110.2:c.-867T>C | XP_016869599.1:n.-867T>C | |
| XM_017014111.2:c.-867T>C | XP_016869600.1:n.-867T>C | |
| XM_017014112.2:c.-867T>C | XP_016869601.1:n.-867T>C | |
| XR_928826.3:n.1249T>C | ||
| NM_014781.5:c.701T>C MANE Select | NP_055596.3:p.Met234Thr | |
| NM_001083617.2:c.701T>C | NP_001077086.1:p.Met234Thr |