gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33167822G>A , CM000668.2:g.33167822G>A | GRCh38 |
| NC_000006.11:g.33135599G>A , CM000668.1:g.33135599G>A | GRCh37 |
| NC_000006.10:g.33243577G>A | NCBI36 |
| NG_011589.1:g.29647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3991C>T MANE Select | ENSP00000339915.2:p.Arg1331Ter | |
| ENST00000341947.6:c.3991C>T | ENSP00000339915.2:p.Arg1331Ter | |
| ENST00000361917.5:c.3670C>T | ENSP00000355123.1:p.Arg1224Ter | |
| ENST00000374708.8:c.3733C>T | ENSP00000363840.4:p.Arg1245Ter | |
| ENST00000477772.1:n.273-2006C>T | ||
| NM_080679.2:c.3670C>T | NP_542410.2:p.Arg1224Ter | |
| NM_080680.2:c.3991C>T | NP_542411.2:p.Arg1331Ter | |
| NM_080681.2:c.3733C>T | NP_542412.2:p.Arg1245Ter | |
| XM_011514298.1:c.3145C>T | XP_011512600.1:p.Arg1049Ter | |
| XM_011514299.1:c.3277C>T | XP_011512601.1:p.Arg1093Ter | |
| XM_011514300.1:c.3097C>T | XP_011512602.1:p.Arg1033Ter | |
| XM_011514301.1:c.3034C>T | XP_011512603.1:p.Arg1012Ter | |
| XM_011514302.1:c.2878C>T | XP_011512604.1:p.Arg960Ter | |
| XM_011514299.2:c.3277C>T | XP_011512601.1:p.Arg1093Ter | |
| XM_011514300.2:c.3097C>T | XP_011512602.1:p.Arg1033Ter | |
| XM_011514302.2:c.2878C>T | XP_011512604.1:p.Arg960Ter | |
| XM_017010250.1:c.3991C>T | XP_016865739.1:p.Arg1331Ter | |
| XM_017010251.2:c.2809C>T | XP_016865740.1:p.Arg937Ter | |
| NM_080680.3:c.3991C>T MANE Select | NP_542411.2:p.Arg1331Ter | |
| NM_080681.3:c.3733C>T | NP_542412.2:p.Arg1245Ter | |
| NM_080679.3:c.3670C>T | NP_542410.2:p.Arg1224Ter |