gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000804 (AFR)
Genomes Max Group AF
0.00000804 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131889981G>T , CM000668.2:g.131889981G>T | GRCh38 |
| NC_000006.11:g.132211121G>T , CM000668.1:g.132211121G>T | GRCh37 |
| NC_000006.10:g.132252814G>T | NCBI36 |
| NG_008206.1:g.86966G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1039-360G>T | ||
| ENST00000647893.1:c.2608-360G>T MANE Select | ENSP00000498074.1:n.2608-360G>T | |
| ENST00000360971.6:c.2608-360G>T | ENSP00000354238.2:n.2608-360G>T | |
| ENST00000513998.5:c.*1445-360G>T | ENSP00000422424.1:n.*1445-360G>T | |
| NM_006208.2:c.2608-360G>T | NP_006199.2:n.2608-360G>T | |
| XM_011535896.1:c.1498-360G>T | XP_011534198.1:n.1498-360G>T | |
| NM_006208.3:c.2608-360G>T MANE Select | NP_006199.2:n.2608-360G>T |