gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032757 (NFE)
Genomes Max Group AF
0.00030407 (NFE)
Exomes Max Group AF
0.00032335 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94407910A>T , CM000669.2:g.94407910A>T | GRCh38 |
| NC_000007.13:g.94037222A>T , CM000669.1:g.94037222A>T | GRCh37 |
| NC_000007.12:g.93875158A>T | NCBI36 |
| NG_007405.1:g.18350A>T , LRG_2:g.18350A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.639+19A>T MANE Select | ENSP00000297268.6:n.639+19A>T | |
| ENST00000297268.10:c.639+19A>T | ENSP00000297268.6:n.639+19A>T | |
| ENST00000620463.1:c.633+19A>T | ENSP00000477719.1:n.633+19A>T | |
| NM_000089.3:c.639+19A>T , LRG_2t1:c.639+19A>T | NP_000080.2:n.639+19A>T | |
| NM_000089.4:c.639+19A>T MANE Select | NP_000080.2:n.639+19A>T |