gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004042 (NFE)
Genomes Max Group AF
0.0000377 (NFE)
Exomes Max Group AF
0.00003821 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123503899G>A , CM000668.2:g.123503899G>A | GRCh38 |
| NC_000006.11:g.123825044G>A , CM000668.1:g.123825044G>A | GRCh37 |
| NC_000006.10:g.123866743G>A | NCBI36 |
| NG_030438.1:g.138195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361029.9:c.415C>T | ENSP00000354307.5:p.Gln139Ter | |
| ENST00000546248.6:c.613C>T | ENSP00000439281.2:p.Gln205Ter | |
| ENST00000334268.9:c.613C>T MANE Select | ENSP00000333984.5:p.Gln205Ter | |
| ENST00000662930.1:c.613C>T | ENSP00000499585.1:p.Gln205Ter | |
| ENST00000334268.8:c.613C>T | ENSP00000333984.5:p.Gln205Ter | |
| ENST00000361029.8:c.129C>T | ||
| ENST00000546248.5:c.613C>T | ENSP00000439281.2:p.Gln205Ter | |
| ENST00000628709.2:c.613C>T | ENSP00000486095.1:p.Gln205Ter | |
| NM_001251987.1:c.613C>T | NP_001238916.1:p.Gln205Ter | |
| NM_001256020.1:c.613C>T | NP_001242949.1:p.Gln205Ter | |
| NM_001256021.1:c.613C>T | NP_001242950.1:p.Gln205Ter | |
| NM_006073.3:c.613C>T | NP_006064.2:p.Gln205Ter | |
| XM_011535382.1:c.613C>T | XP_011533684.1:p.Gln205Ter | |
| NM_006073.4:c.613C>T MANE Select | NP_006064.2:p.Gln205Ter | |
| NM_001251987.2:c.613C>T | NP_001238916.1:p.Gln205Ter | |
| NM_001256020.2:c.613C>T | NP_001242949.1:p.Gln205Ter | |
| NM_001256021.2:c.613C>T | NP_001242950.1:p.Gln205Ter |