gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171805G>A , CM000668.2:g.33171805G>A | GRCh38 |
| NC_000006.11:g.33139582G>A , CM000668.1:g.33139582G>A | GRCh37 |
| NC_000006.10:g.33247560G>A | NCBI36 |
| NG_011589.1:g.25664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3058C>T MANE Select | ENSP00000339915.2:p.Arg1020Ter | |
| ENST00000341947.6:c.3058C>T | ENSP00000339915.2:p.Arg1020Ter | |
| ENST00000361917.5:c.2737C>T | ENSP00000355123.1:p.Arg913Ter | |
| ENST00000374708.8:c.2800C>T | ENSP00000363840.4:p.Arg934Ter | |
| ENST00000477772.1:n.272+5204C>T | ||
| NM_080679.2:c.2737C>T | NP_542410.2:p.Arg913Ter | |
| NM_080680.2:c.3058C>T | NP_542411.2:p.Arg1020Ter | |
| NM_080681.2:c.2800C>T | NP_542412.2:p.Arg934Ter | |
| XM_011514298.1:c.2212C>T | XP_011512600.1:p.Arg738Ter | |
| XM_011514299.1:c.2344C>T | XP_011512601.1:p.Arg782Ter | |
| XM_011514300.1:c.2164C>T | XP_011512602.1:p.Arg722Ter | |
| XM_011514301.1:c.2101C>T | XP_011512603.1:p.Arg701Ter | |
| XM_011514302.1:c.1945C>T | XP_011512604.1:p.Arg649Ter | |
| XM_011514299.2:c.2344C>T | XP_011512601.1:p.Arg782Ter | |
| XM_011514300.2:c.2164C>T | XP_011512602.1:p.Arg722Ter | |
| XM_011514302.2:c.1945C>T | XP_011512604.1:p.Arg649Ter | |
| XM_017010250.1:c.3058C>T | XP_016865739.1:p.Arg1020Ter | |
| XM_017010251.2:c.1876C>T | XP_016865740.1:p.Arg626Ter | |
| NM_080680.3:c.3058C>T MANE Select | NP_542411.2:p.Arg1020Ter | |
| NM_080681.3:c.2800C>T | NP_542412.2:p.Arg934Ter | |
| NM_080679.3:c.2737C>T | NP_542410.2:p.Arg913Ter |