gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42812441 (NFE)
Genomes Max Group AF
0.42812441 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10168778G>A , CM000681.2:g.10168778G>A | GRCh38 |
| NC_000019.9:g.10279454G>A , CM000681.1:g.10279454G>A | GRCh37 |
| NC_000019.8:g.10140454G>A | NCBI36 |
| NG_028016.3:g.67509C>T , LRG_362:g.67509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.769-414C>T MANE Select | ENSP00000352516.3:n.769-414C>T | |
| ENST00000676604.1:n.375-414C>T | ||
| ENST00000676610.1:c.721-414C>T | ENSP00000504236.1:n.721-414C>T | |
| ENST00000676820.1:n.777-414C>T | ||
| ENST00000677013.1:c.*411-414C>T | ENSP00000503135.1:n.*411-414C>T | |
| ENST00000677250.1:c.721-414C>T | ENSP00000502894.1:n.721-414C>T | |
| ENST00000677616.1:c.406-414C>T | ENSP00000503055.1:n.406-414C>T | |
| ENST00000677634.1:c.721-414C>T | ENSP00000504246.1:n.721-414C>T | |
| ENST00000677685.1:c.501-414C>T | ENSP00000503407.1:n.501-414C>T | |
| ENST00000677946.1:c.721-414C>T | ENSP00000504202.1:n.721-414C>T | |
| ENST00000678024.1:n.858-414C>T | ||
| ENST00000678804.1:c.721-414C>T | ENSP00000503853.1:n.721-414C>T | |
| ENST00000679103.1:c.721-414C>T | ENSP00000503151.1:n.721-414C>T | |
| ENST00000679313.1:c.721-414C>T | ENSP00000504512.1:n.721-414C>T | |
| ENST00000340748.8:c.721-414C>T | ENSP00000345739.3:n.721-414C>T | |
| ENST00000359526.8:c.769-414C>T | ENSP00000352516.3:n.769-414C>T | |
| ENST00000540357.5:c.-288-414C>T | ENSP00000440457.2:n.-288-414C>T | |
| ENST00000586988.5:c.*549-414C>T | ENSP00000464958.1:n.*549-414C>T | |
| ENST00000592705.5:c.*459-414C>T | ENSP00000466657.1:n.*459-414C>T | |
| NM_001130823.1:c.769-414C>T , LRG_362t1:c.769-414C>T | NP_001124295.1:n.769-414C>T | |
| NM_001379.2:c.721-414C>T | NP_001370.1:n.721-414C>T | |
| XM_011527772.1:c.769-414C>T | XP_011526074.1:n.769-414C>T | |
| XM_011527773.1:c.721-414C>T | XP_011526075.1:n.721-414C>T | |
| XM_011527774.1:c.358-414C>T | XP_011526076.1:n.358-414C>T | |
| NM_001130823.2:c.769-414C>T | NP_001124295.1:n.769-414C>T | |
| NM_001318730.1:c.721-414C>T | NP_001305659.1:n.721-414C>T | |
| NM_001318731.1:c.406-414C>T | NP_001305660.1:n.406-414C>T | |
| NM_001379.3:c.721-414C>T | NP_001370.1:n.721-414C>T | |
| NM_001130823.3:c.769-414C>T MANE Select | NP_001124295.1:n.769-414C>T | |
| NM_001318730.2:c.721-414C>T | NP_001305659.1:n.721-414C>T | |
| NM_001318731.2:c.406-414C>T | NP_001305660.1:n.406-414C>T | |
| NM_001379.4:c.721-414C>T | NP_001370.1:n.721-414C>T |