gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59739459 (AFR)
Genomes Max Group AF
0.59739459 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75192588C>T , CM000664.2:g.75192588C>T | GRCh38 |
| NC_000002.11:g.75419714C>T , CM000664.1:g.75419714C>T | GRCh37 |
| NC_000002.10:g.75273222C>T | NCBI36 |
| NG_029522.1:g.11932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305249.10:c.389+5958G>A MANE Select | ENSP00000303522.4:n.389+5958G>A | |
| ENST00000305249.9:c.389+5958G>A | ENSP00000303522.4:n.389+5958G>A | |
| ENST00000409848.3:c.389+5958G>A | ENSP00000386448.3:n.389+5958G>A | |
| NM_001058.3:c.389+5958G>A | NP_001049.1:n.389+5958G>A | |
| NM_015727.2:c.389+5958G>A | NP_056542.1:n.389+5958G>A | |
| XR_940257.1:n.108+46128C>T | ||
| XR_940257.2:n.109+46128C>T | ||
| NM_001058.4:c.389+5958G>A MANE Select | NP_001049.1:n.389+5958G>A | |
| NM_015727.3:c.389+5958G>A | NP_056542.1:n.389+5958G>A | |
| NR_168009.1:n.372+36273C>T | ||
| NR_168010.1:n.366+36273C>T |