gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00688539 (MID)
Genomes Max Group AF
0.00312003 (NFE)
Exomes Max Group AF
0.00693014 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91279299C>T , CM000676.2:g.91279299C>T | GRCh38 |
| NC_000014.8:g.91745643C>T , CM000676.1:g.91745643C>T | GRCh37 |
| NC_000014.7:g.90815396C>T | NCBI36 |
| NG_033118.1:g.143546G>A | |
| NG_033118.2:g.143546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.4707G>A MANE Select | ENSP00000374507.6:p.Arg1569= | |
| ENST00000331194.8:c.279G>A | ENSP00000330332.8:p.Arg93= | |
| ENST00000334448.5:n.519G>A | ||
| ENST00000389857.10:c.4707G>A | ENSP00000374507.6:p.Arg1569= | |
| ENST00000556726.5:c.935G>A | ||
| ENST00000557455.1:n.679G>A | ||
| NM_001080414.3:c.4707G>A | NP_001073883.2:p.Arg1569= | |
| XM_011536796.1:c.4599G>A | XP_011535098.1:p.Arg1533= | |
| XR_429316.2:n.4982G>A | ||
| XM_011536796.2:c.4599G>A | XP_011535098.1:p.Arg1533= | |
| XM_017021336.1:c.1788G>A | XP_016876825.1:p.Arg596= | |
| XR_429316.4:n.4980G>A | ||
| NM_001080414.4:c.4707G>A MANE Select | NP_001073883.2:p.Arg1569= |