gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002234 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002201 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94410228G>T , CM000669.2:g.94410228G>T | GRCh38 |
| NC_000007.13:g.94039540G>T , CM000669.1:g.94039540G>T | GRCh37 |
| NC_000007.12:g.93877476G>T | NCBI36 |
| NG_007405.1:g.20668G>T , LRG_2:g.20668G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1036-14G>T MANE Select | ENSP00000297268.6:n.1036-14G>T | |
| ENST00000297268.10:c.1036-14G>T | ENSP00000297268.6:n.1036-14G>T | |
| ENST00000620463.1:c.1030-14G>T | ENSP00000477719.1:n.1030-14G>T | |
| NM_000089.3:c.1036-14G>T , LRG_2t1:c.1036-14G>T | NP_000080.2:n.1036-14G>T | |
| NM_000089.4:c.1036-14G>T MANE Select | NP_000080.2:n.1036-14G>T |