COSMIC:
COSM148311 (not active)
Revel Score:
ENST00000325752 (MANE Select)
0.102
ENST00000340993
0.102
ENST00000394239
0.102
ENST00000376094
0.102
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57494048 (EAS)
Genomes Max Group AF
0.54303184 (EAS)
Exomes Max Group AF
0.5772586 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59886176A>G , CM000679.2:g.59886176A>G | GRCh38 |
| NC_000017.10:g.57963537A>G , CM000679.1:g.57963537A>G | GRCh37 |
| NC_000017.9:g.55318319A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325752.8:c.227T>C MANE Select | ENSP00000320797.3:p.Met76Thr | |
| ENST00000325752.7:c.227T>C | ENSP00000320797.3:p.Met76Thr | |
| ENST00000340993.10:c.227T>C | ENSP00000342399.5:p.Met76Thr | |
| ENST00000346141.10:c.172+4655T>C | ENSP00000342561.5:n.172+4655T>C | |
| ENST00000376094.8:c.227T>C | ENSP00000365262.4:p.Met76Thr | |
| ENST00000394239.7:c.227T>C | ENSP00000377785.3:p.Met76Thr | |
| ENST00000539018.5:c.-112+6521T>C | ENSP00000441757.1:n.-112+6521T>C | |
| ENST00000590498.5:c.26T>C | ENSP00000465579.1:p.Met9Thr | |
| ENST00000591548.5:c.227T>C | ENSP00000467915.1:p.Met76Thr | |
| ENST00000591611.5:n.469T>C | ||
| ENST00000592426.5:c.227T>C | ENSP00000468518.1:p.Met76Thr | |
| ENST00000593110.5:c.26T>C | ENSP00000466681.1:p.Met9Thr | |
| ENST00000613721.4:c.227T>C | ENSP00000480387.1:p.Met76Thr | |
| NM_001193609.1:c.227T>C | NP_001180538.1:p.Met76Thr | |
| NM_001193610.1:c.227T>C | NP_001180539.1:p.Met76Thr | |
| NM_001193611.1:c.227T>C | NP_001180540.1:p.Met76Thr | |
| NM_001193612.1:c.-227T>C | NP_001180541.1:n.-227T>C | |
| NM_001193613.1:c.-112+6521T>C | NP_001180542.1:n.-112+6521T>C | |
| NM_016261.3:c.227T>C | NP_057345.2:p.Met76Thr | |
| XM_005257425.1:c.26T>C | XP_005257482.1:p.Met9Thr | |
| XM_011524871.1:c.227T>C | XP_011523173.1:p.Met76Thr | |
| XM_011524871.3:c.227T>C | XP_011523173.1:p.Met76Thr | |
| XM_017024716.2:c.227T>C | XP_016880205.1:p.Met76Thr | |
| XM_017024717.2:c.-28T>C | XP_016880206.1:n.-28T>C | |
| XM_017024718.2:c.-28T>C | XP_016880207.1:n.-28T>C | |
| XM_017024719.2:c.-28T>C | XP_016880208.1:n.-28T>C | |
| XM_017024720.1:c.-28T>C | XP_016880209.1:n.-28T>C | |
| XM_024450783.1:c.-28T>C | XP_024306551.1:n.-28T>C | |
| XM_024450784.1:c.-28T>C | XP_024306552.1:n.-28T>C | |
| NM_016261.4:c.227T>C MANE Select | NP_057345.2:p.Met76Thr | |
| NM_001193609.2:c.227T>C | NP_001180538.1:p.Met76Thr | |
| NM_001193610.2:c.227T>C | NP_001180539.1:p.Met76Thr | |
| NM_001193611.2:c.227T>C | NP_001180540.1:p.Met76Thr | |
| NM_001193612.2:c.-227T>C | NP_001180541.1:n.-227T>C | |
| NM_001193613.2:c.-112+6521T>C | NP_001180542.1:n.-112+6521T>C |