gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49864205G>A , CM000681.2:g.49864205G>A | GRCh38 |
| NC_000019.9:g.50367462G>A , CM000681.1:g.50367462G>A | GRCh37 |
| NC_000019.8:g.55059274G>A | NCBI36 |
| NG_027717.1:g.8361C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.610C>T MANE Select | ENSP00000323511.2:p.Arg204Ter | |
| ENST00000636214.1:c.*147C>T | ENSP00000489983.1:n.*147C>T | |
| ENST00000322344.7:c.610C>T | ENSP00000323511.2:p.Arg204Ter | |
| ENST00000593946.5:c.*537C>T | ENSP00000468896.1:n.*537C>T | |
| ENST00000594661.5:n.1111C>T | ||
| ENST00000596014.5:c.610C>T | ENSP00000472300.1:p.Arg204Ter | |
| ENST00000599543.3:c.610C>T | ENSP00000469848.2:p.Arg204Ter | |
| ENST00000600573.5:c.610C>T | ENSP00000469826.1:p.Arg204Ter | |
| ENST00000600910.5:c.610C>T | ENSP00000473137.1:p.Arg204Ter | |
| ENST00000627232.2:c.530C>T | ENSP00000486037.1:n.530C>T | |
| ENST00000627317.1:c.258-134C>T | ||
| ENST00000629179.1:n.381C>T | ||
| ENST00000631020.2:c.610C>T | ENSP00000486707.1:p.Arg204Ter | |
| NM_007254.3:c.610C>T | NP_009185.2:p.Arg204Ter | |
| NM_007254.4:c.610C>T MANE Select | NP_009185.2:p.Arg204Ter |