gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49413864 (NFE)
Genomes Max Group AF
0.49413864 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23775338C>T , CM000684.2:g.23775338C>T | GRCh38 |
| NC_000022.10:g.24117525C>T , CM000684.1:g.24117525C>T | GRCh37 |
| NC_000022.9:g.22447525C>T | NCBI36 |
| NG_029443.1:g.7490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215743.8:c.108+2360C>T MANE Select | ENSP00000215743.3:n.108+2360C>T | |
| ENST00000215743.7:c.108+2360C>T | ENSP00000215743.3:n.108+2360C>T | |
| ENST00000428253.1:c.108+2360C>T | ENSP00000409860.1:n.108+2360C>T | |
| ENST00000437086.5:c.108+2360C>T | ENSP00000408070.1:n.108+2360C>T | |
| ENST00000465385.5:n.751-3849C>T | ||
| ENST00000465730.1:n.133+2360C>T | ||
| ENST00000477567.5:n.273-3849C>T | ||
| ENST00000489582.5:n.135-3849C>T | ||
| NM_005940.3:c.108+2360C>T | NP_005931.2:n.108+2360C>T | |
| NM_005940.4:c.108+2360C>T | NP_005931.2:n.108+2360C>T | |
| NR_133013.1:n.160+2360C>T | ||
| NM_005940.5:c.108+2360C>T MANE Select | NP_005931.2:n.108+2360C>T | |
| NR_133013.2:n.130+2360C>T |