ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010437 (EAS)
Exomes Max Group AF
0.00011876 (EAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102689900G>A , CM000672.2:g.102689900G>A | GRCh38 |
| NC_000010.10:g.104449657G>A , CM000672.1:g.104449657G>A | GRCh37 |
| NC_000010.9:g.104439647G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.308C>T MANE Select | ENSP00000260746.4:p.Thr103Met | |
| ENST00000260746.5:c.308C>T | ENSP00000260746.4:p.Thr103Met | |
| NM_004311.3:c.308C>T | NP_004302.1:p.Thr103Met | |
| XM_017016260.1:c.308C>T | XP_016871749.1:p.Thr103Met | |
| NM_004311.4:c.308C>T MANE Select | NP_004302.1:p.Thr103Met |