gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020889 (NFE)
Genomes Max Group AF
0.00015227 (NFE)
Exomes Max Group AF
0.00020728 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25800311C>T , CM000663.2:g.25800311C>T | GRCh38 |
| NC_000001.10:g.26126802C>T , CM000663.1:g.26126802C>T | GRCh37 |
| NC_000001.9:g.25999389C>T | NCBI36 |
| NG_009930.1:g.5136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.81C>T | ENSP00000346109.5:p.Arg27= | |
| ENST00000494537.2:c.81C>T | ENSP00000508308.1:p.Arg27= | |
| ENST00000361547.7:c.81C>T MANE Select | ENSP00000355141.2:p.Arg27= | |
| ENST00000354177.8:c.81C>T | ENSP00000346109.4:p.Arg27= | |
| ENST00000361547.6:c.81C>T | ENSP00000355141.2:p.Arg27= | |
| ENST00000374315.1:c.81C>T | ENSP00000363434.1:p.Arg27= | |
| NM_020451.2:c.81C>T | NP_065184.2:p.Arg27= | |
| NM_206926.1:c.81C>T | NP_996809.1:p.Arg27= | |
| NM_020451.3:c.81C>T MANE Select | NP_065184.2:p.Arg27= | |
| NM_206926.2:c.81C>T | NP_996809.1:p.Arg27= |