ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012747 (NFE)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00012799 (NFE)
Revel Score:
ENST00000373853
0.796
ENST00000360215 (MANE Select)
0.796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814627C>T , CM000668.2:g.35814627C>T | GRCh38 |
| NC_000006.11:g.35782404C>T , CM000668.1:g.35782404C>T | GRCh37 |
| NC_000006.10:g.35890382C>T | NCBI36 |
| NG_012184.1:g.14334C>T | |
| NG_012184.2:g.14334C>T | |
| NG_012184.3:g.22422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.494C>T MANE Select | ENSP00000353346.1:p.Thr165Met | |
| ENST00000496656.2:n.273C>T | ||
| ENST00000651132.1:c.494C>T | ENSP00000498322.1:p.Thr165Met | |
| ENST00000651676.1:c.494C>T | ENSP00000498699.1:p.Thr165Met | |
| ENST00000651994.1:c.*70-4810C>T | ENSP00000498310.1:n.*70-4810C>T | |
| ENST00000652718.1:c.326C>T | ENSP00000498866.1:p.Thr109Met | |
| ENST00000360215.2:c.494C>T | ENSP00000353346.1:p.Thr165Met | |
| ENST00000496656.1:n.273C>T | ||
| NM_182548.3:c.494C>T | NP_872354.1:p.Thr165Met | |
| XM_011514403.1:c.494C>T | XP_011512705.1:p.Thr165Met | |
| NM_182548.4:c.494C>T MANE Select | NP_872354.1:p.Thr165Met |