gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20874044 (AMR)
Genomes Max Group AF
0.20874044 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75139811C>T , CM000664.2:g.75139811C>T | GRCh38 |
| NC_000002.11:g.75366937C>T , CM000664.1:g.75366937C>T | GRCh37 |
| NC_000002.10:g.75220445C>T | NCBI36 |
| NG_029522.1:g.64709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305249.10:c.390-19043G>A MANE Select | ENSP00000303522.4:n.390-19043G>A | |
| ENST00000305249.9:c.390-19043G>A | ENSP00000303522.4:n.390-19043G>A | |
| ENST00000409848.3:c.390-19043G>A | ENSP00000386448.3:n.390-19043G>A | |
| NM_001058.3:c.390-19043G>A | NP_001049.1:n.390-19043G>A | |
| NM_015727.2:c.390-19043G>A | NP_056542.1:n.390-19043G>A | |
| NM_001058.4:c.390-19043G>A MANE Select | NP_001049.1:n.390-19043G>A | |
| NM_015727.3:c.390-19043G>A | NP_056542.1:n.390-19043G>A |