gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005789 (EAS)
Exomes Max Group AF
0.00004909 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206152508G>A , CM000664.2:g.206152508G>A | GRCh38 |
| NC_000002.11:g.207017232G>A , CM000664.1:g.207017232G>A | GRCh37 |
| NC_000002.10:g.206725477G>A | NCBI36 |
| NG_009248.1:g.11956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.64C>T MANE Select | ENSP00000233190.5:p.Arg22Ter | |
| ENST00000233190.10:c.64C>T | ENSP00000233190.5:p.Arg22Ter | |
| ENST00000423725.5:c.-19+1110C>T | ENSP00000397760.1:n.-19+1110C>T | |
| ENST00000432169.5:c.5+1110C>T | ENSP00000409689.1:n.5+1110C>T | |
| ENST00000440274.5:c.64C>T | ENSP00000409766.1:p.Arg22Ter | |
| ENST00000449699.5:c.64C>T | ENSP00000399912.1:p.Arg22Ter | |
| ENST00000454195.1:c.64C>T | ENSP00000389413.1:p.Arg22Ter | |
| ENST00000455934.6:c.106C>T | ENSP00000392709.2:p.Arg36Ter | |
| ENST00000456284.5:c.64C>T | ENSP00000395553.1:p.Arg22Ter | |
| ENST00000457011.5:c.-10-4674C>T | ENSP00000400976.1:n.-10-4674C>T | |
| NM_001199981.1:c.64C>T | NP_001186910.1:p.Arg22Ter | |
| NM_001199982.1:c.5+1110C>T | NP_001186911.1:n.5+1110C>T | |
| NM_001199983.1:c.-19+1110C>T | NP_001186912.1:n.-19+1110C>T | |
| NM_001199984.1:c.106C>T | NP_001186913.1:p.Arg36Ter | |
| NM_005006.6:c.64C>T | NP_004997.4:p.Arg22Ter | |
| XM_017004188.2:c.-727C>T | XP_016859677.1:n.-727C>T | |
| NM_001199981.2:c.64C>T | NP_001186910.1:p.Arg22Ter | |
| NM_001199982.2:c.5+1110C>T | NP_001186911.1:n.5+1110C>T | |
| NM_001199983.2:c.-19+1110C>T | NP_001186912.1:n.-19+1110C>T | |
| NM_005006.7:c.64C>T MANE Select | NP_004997.4:p.Arg22Ter | |
| NM_001199984.2:c.106C>T | NP_001186913.1:p.Arg36Ter |