ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571363G>A , CM000673.2:g.2571363G>A | GRCh38 |
| NC_000011.9:g.2592593G>A , CM000673.1:g.2592593G>A | GRCh37 |
| NC_000011.8:g.2549169G>A | NCBI36 |
| NG_008935.1:g.131373G>A , LRG_287:g.131373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.382G>A | ENSP00000434560.2:p.Val128Met | |
| ENST00000646564.2:c.478-12072G>A | ENSP00000495806.2:n.478-12072G>A | |
| ENST00000155840.12:c.643G>A MANE Select | ENSP00000155840.2:p.Val215Met | |
| ENST00000335475.6:c.262G>A | ENSP00000334497.5:p.Val88Met | |
| ENST00000646564.1:c.124-12072G>A | ENSP00000495806.1:n.124-12072G>A | |
| ENST00000155840.9:c.643G>A | ENSP00000155840.2:p.Val215Met | |
| ENST00000335475.5:c.262G>A | ENSP00000334497.5:p.Val88Met | |
| ENST00000496887.6:c.382G>A | ENSP00000434560.1:p.Val128Met | |
| NM_000218.2:c.643G>A , LRG_287t1:c.643G>A | NP_000209.2:p.Val215Met | |
| NM_181798.1:c.262G>A , LRG_287t2:c.262G>A | NP_861463.1:p.Val88Met | |
| NM_000218.3:c.643G>A MANE Select | NP_000209.2:p.Val215Met |