gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21446074 (EAS)
Genomes Max Group AF
0.21446074 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218891661C>T , CM000664.2:g.218891661C>T | GRCh38 |
| NC_000002.11:g.219756383C>T , CM000664.1:g.219756383C>T | GRCh37 |
| NC_000002.10:g.219464627C>T | NCBI36 |
| NG_012179.1:g.16129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.757-1113C>T MANE Select | ENSP00000258411.3:n.757-1113C>T | |
| ENST00000258411.7:c.757-1113C>T | ENSP00000258411.3:n.757-1113C>T | |
| ENST00000458582.1:c.264-1113C>T | ||
| NM_025216.2:c.757-1113C>T | NP_079492.2:n.757-1113C>T | |
| XM_011511928.1:c.706-1113C>T | XP_011510230.1:n.706-1113C>T | |
| XM_011511929.1:c.661-1113C>T | XP_011510231.1:n.661-1113C>T | |
| XM_011511930.1:c.377-1113C>T | XP_011510232.1:n.377-1113C>T | |
| XM_011511929.2:c.661-1113C>T | XP_011510231.1:n.661-1113C>T | |
| NM_025216.3:c.757-1113C>T MANE Select | NP_079492.2:n.757-1113C>T |