gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00787116 (NFE)
Genomes Max Group AF
0.00787116 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233635964T>A , CM000664.2:g.233635964T>A | GRCh38 |
| NC_000002.11:g.234544610T>A , CM000664.1:g.234544610T>A | GRCh37 |
| NC_000002.10:g.234209349T>A | NCBI36 |
| NG_002601.2:g.51221T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.855+17402T>A MANE Select | ENSP00000362549.4:n.855+17402T>A | |
| ENST00000373450.4:c.855+17402T>A | ENSP00000362549.4:n.855+17402T>A | |
| NM_019076.4:c.855+17402T>A | NP_061949.3:n.855+17402T>A | |
| NM_019076.5:c.855+17402T>A MANE Select | NP_061949.3:n.855+17402T>A |