dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32775925 (EAS)
Genomes Max Group AF
0.32775925 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63028658T>C , CM000670.2:g.63028658T>C | GRCh38 |
| NC_000008.10:g.63941217T>C , CM000670.1:g.63941217T>C | GRCh37 |
| NC_000008.9:g.64103771T>C | NCBI36 |
| NG_028126.1:g.15394A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260118.7:c.276-1393A>G MANE Select | ENSP00000260118.6:n.276-1393A>G | |
| ENST00000518113.2:c.276-1393A>G | ENSP00000504520.1:n.276-1393A>G | |
| ENST00000518466.6:n.239-1393A>G | ||
| ENST00000523788.2:n.1811A>G | ||
| ENST00000677327.1:n.915-1393A>G | ||
| ENST00000677459.1:c.*191-1393A>G | ENSP00000503731.1:n.*191-1393A>G | |
| ENST00000677482.1:c.276-1393A>G | ENSP00000504590.1:n.276-1393A>G | |
| ENST00000678045.1:n.1231-1393A>G | ||
| ENST00000678069.1:n.1818A>G | ||
| ENST00000679326.1:c.276-1393A>G | ENSP00000504262.1:n.276-1393A>G | |
| ENST00000260118.6:c.276-1393A>G | ENSP00000260118.6:n.276-1393A>G | |
| ENST00000518113.1:n.51-1393A>G | ||
| ENST00000518966.5:n.309-1393A>G | ||
| ENST00000520609.5:n.309-1393A>G | ||
| NM_003878.2:c.276-1393A>G | NP_003869.1:n.276-1393A>G | |
| XM_011517623.1:c.276-1393A>G | XP_011515925.1:n.276-1393A>G | |
| XM_011517623.3:c.276-1393A>G | XP_011515925.1:n.276-1393A>G | |
| NM_003878.3:c.276-1393A>G MANE Select | NP_003869.1:n.276-1393A>G |