ClinGen Evidence Repository:
Classification
Benign
COSMIC:
COSM5019095 (not active)
COSM5019096 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01626304 (NFE)
Genomes Max Group AF
0.01454434 (NFE)
Exomes Max Group AF
0.01632676 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17832574G>A , CM000681.2:g.17832574G>A | GRCh38 |
| NC_000019.9:g.17943383G>A , CM000681.1:g.17943383G>A | GRCh37 |
| NC_000019.8:g.17804383G>A | NCBI36 |
| NG_007273.1:g.20418C>T , LRG_77:g.20418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1182C>T | ENSP00000513006.1:n.*1182C>T | |
| ENST00000696967.1:n.1802C>T | ||
| ENST00000696969.1:n.862C>T | ||
| ENST00000696970.1:n.1280C>T | ||
| ENST00000458235.7:c.2625C>T MANE Select | ENSP00000391676.1:p.Leu875= | |
| ENST00000458235.5:c.2625C>T | ENSP00000391676.1:p.Leu875= | |
| ENST00000527031.5:n.2278+4153C>T | ||
| ENST00000527670.5:c.2625C>T | ENSP00000432511.1:p.Leu875= | |
| ENST00000534444.1:c.2625C>T | ENSP00000436421.1:p.Leu875= | |
| NM_000215.3:c.2625C>T , LRG_77t1:c.2625C>T | NP_000206.2:p.Leu875= | |
| XM_005259896.2:c.2754C>T | XP_005259953.1:p.Leu918= | |
| XM_006722745.2:c.2625C>T | XP_006722808.1:p.Leu875= | |
| XR_430137.2:n.2764C>T | ||
| XM_005259896.3:c.2754C>T | XP_005259953.1:p.Leu918= | |
| NM_000215.4:c.2625C>T MANE Select | NP_000206.2:p.Leu875= |