ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00192295 (NFE)
Genomes Max Group AF
0.00152066 (NFE)
Exomes Max Group AF
0.00193363 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774705C>T , CM000683.2:g.43774705C>T | GRCh38 |
| NC_000021.8:g.45194586C>T , CM000683.1:g.45194586C>T | GRCh37 |
| NC_000021.7:g.44019014C>T | NCBI36 |
| NG_011545.1:g.6674G>A , LRG_485:g.6674G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.121G>A MANE Select | ENSP00000291568.6:p.Val41Met | |
| ENST00000480147.3:n.1564G>A | ||
| ENST00000639959.1:c.36-375G>A | ||
| ENST00000640406.1:c.121G>A | ENSP00000492672.1:p.Val41Met | |
| ENST00000675996.1:n.546G>A | ||
| ENST00000291568.5:c.121G>A | ENSP00000291568.5:p.Val41Met | |
| ENST00000480147.1:n.158G>A | ||
| NM_000100.3:c.121G>A , LRG_485t1:c.121G>A | NP_000091.1:p.Val41Met | |
| NM_000100.4:c.121G>A MANE Select | NP_000091.1:p.Val41Met |