gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013403 (MID)
Exomes Max Group AF
0.00014138 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891406C>T , CM000664.2:g.72891406C>T | GRCh38 |
| NC_000002.11:g.73118535C>T , CM000664.1:g.73118535C>T | GRCh37 |
| NC_000002.10:g.72972043C>T | NCBI36 |
| NG_008234.1:g.9024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.655C>T MANE Select | ENSP00000234454.5:p.Arg219Ter | |
| ENST00000234454.5:c.655C>T | ENSP00000234454.5:p.Arg219Ter | |
| ENST00000498749.1:n.600C>T | ||
| NM_003124.4:c.655C>T | NP_003115.1:p.Arg219Ter | |
| NM_003124.5:c.655C>T MANE Select | NP_003115.1:p.Arg219Ter |