ClinGen Evidence Repository:
Classification
Benign
COSMIC:
COSM3766269 (not active)
Revel Score:
ENST00000252288 (MANE Select)
0.313
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10530681 (NFE)
Genomes Max Group AF
0.10192715 (NFE)
Exomes Max Group AF
0.10540466 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397444G>A , CM000681.2:g.1397444G>A | GRCh38 |
| NC_000019.9:g.1397443G>A , CM000681.1:g.1397443G>A | GRCh37 |
| NC_000019.8:g.1348443G>A | NCBI36 |
| NG_008283.1:g.18561G>A | |
| NG_009785.1:g.9110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.626C>T MANE Select | ENSP00000252288.1:p.Thr209Met | |
| ENST00000640164.1:n.459C>T | ||
| ENST00000640762.1:c.557C>T | ENSP00000492031.1:p.Thr186Met | |
| ENST00000252288.6:c.626C>T | ENSP00000252288.1:p.Thr209Met | |
| NM_000156.5:c.626C>T | NP_000147.1:p.Thr209Met | |
| NM_000156.6:c.626C>T MANE Select | NP_000147.1:p.Thr209Met |