ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571391C>T , CM000673.2:g.2571391C>T | GRCh38 |
| NC_000011.9:g.2592621C>T , CM000673.1:g.2592621C>T | GRCh37 |
| NC_000011.8:g.2549197C>T | NCBI36 |
| NG_008935.1:g.131401C>T , LRG_287:g.131401C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.410C>T | ENSP00000434560.2:p.Thr137Met | |
| ENST00000646564.2:c.478-12044C>T | ENSP00000495806.2:n.478-12044C>T | |
| ENST00000155840.12:c.671C>T MANE Select | ENSP00000155840.2:p.Thr224Met | |
| ENST00000335475.6:c.290C>T | ENSP00000334497.5:p.Thr97Met | |
| ENST00000646564.1:c.124-12044C>T | ENSP00000495806.1:n.124-12044C>T | |
| ENST00000155840.9:c.671C>T | ENSP00000155840.2:p.Thr224Met | |
| ENST00000335475.5:c.290C>T | ENSP00000334497.5:p.Thr97Met | |
| ENST00000496887.6:c.410C>T | ENSP00000434560.1:p.Thr137Met | |
| NM_000218.2:c.671C>T , LRG_287t1:c.671C>T | NP_000209.2:p.Thr224Met | |
| NM_181798.1:c.290C>T , LRG_287t2:c.290C>T | NP_861463.1:p.Thr97Met | |
| NM_000218.3:c.671C>T MANE Select | NP_000209.2:p.Thr224Met |