gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02081333 (AFR)
Genomes Max Group AF
0.02081333 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151005693C>T , CM000669.2:g.151005693C>T | GRCh38 |
| NC_000007.13:g.150702781C>T , CM000669.1:g.150702781C>T | GRCh37 |
| NC_000007.12:g.150333714C>T | NCBI36 |
| NG_011992.1:g.19635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.1753-734C>T MANE Select | ENSP00000297494.3:n.1753-734C>T | |
| ENST00000297494.7:c.1753-734C>T | ENSP00000297494.3:n.1753-734C>T | |
| ENST00000461406.5:c.1135-734C>T | ENSP00000417143.1:n.1135-734C>T | |
| NM_000603.4:c.1753-734C>T | NP_000594.2:n.1753-734C>T | |
| XM_006716002.2:c.1753-734C>T | XP_006716065.1:n.1753-734C>T | |
| NM_000603.5:c.1753-734C>T MANE Select | NP_000594.2:n.1753-734C>T |