ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015875 (NFE)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00016115 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891502A>T , CM000664.2:g.72891502A>T | GRCh38 |
| NC_000002.11:g.73118631A>T , CM000664.1:g.73118631A>T | GRCh37 |
| NC_000002.10:g.72972139A>T | NCBI36 |
| NG_008234.1:g.9120A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.751A>T MANE Select | ENSP00000234454.5:p.Lys251Ter | |
| ENST00000234454.5:c.751A>T | ENSP00000234454.5:p.Lys251Ter | |
| ENST00000498749.1:n.696A>T | ||
| NM_003124.4:c.751A>T | NP_003115.1:p.Lys251Ter | |
| NM_003124.5:c.751A>T MANE Select | NP_003115.1:p.Lys251Ter |