gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00036641 (NFE)
Genomes Max Group AF
0.00026702 (NFE)
Exomes Max Group AF
0.00036634 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123366174G>A , CM000668.2:g.123366174G>A | GRCh38 |
| NC_000006.11:g.123687319G>A , CM000668.1:g.123687319G>A | GRCh37 |
| NC_000006.10:g.123729018G>A | NCBI36 |
| NG_030438.1:g.275920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.1282C>T MANE Select | ENSP00000333984.5:p.Arg428Ter | |
| ENST00000662930.1:c.1285C>T | ENSP00000499585.1:p.Arg429Ter | |
| ENST00000334268.8:c.1282C>T | ENSP00000333984.5:p.Arg428Ter | |
| NM_001251987.1:c.1285C>T | NP_001238916.1:p.Arg429Ter | |
| NM_006073.3:c.1282C>T | NP_006064.2:p.Arg428Ter | |
| XM_011535382.1:c.1279C>T | XP_011533684.1:p.Arg427Ter | |
| NM_006073.4:c.1282C>T MANE Select | NP_006064.2:p.Arg428Ter | |
| NM_001251987.2:c.1285C>T | NP_001238916.1:p.Arg429Ter |