gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003762 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58275265G>A , CM000679.2:g.58275265G>A | GRCh38 |
| NC_000017.10:g.56352626G>A , CM000679.1:g.56352626G>A | GRCh37 |
| NC_000017.9:g.53707625G>A | NCBI36 |
| NG_009629.1:g.10671C>T , LRG_84:g.10671C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.698+277C>T | ||
| ENST00000699291.1:c.491-1596C>T | ENSP00000514272.1:n.491-1596C>T | |
| ENST00000225275.4:c.1365+277C>T MANE Select | ENSP00000225275.3:n.1365+277C>T | |
| ENST00000225275.3:c.1365+277C>T | ENSP00000225275.3:n.1365+277C>T | |
| NM_000250.1:c.1365+277C>T , LRG_84t1:c.1365+277C>T | NP_000241.1:n.1365+277C>T | |
| XM_011524821.1:c.1551+277C>T | XP_011523123.1:n.1551+277C>T | |
| XM_011524822.1:c.1080+277C>T | XP_011523124.1:n.1080+277C>T | |
| XM_011524823.1:c.1391-1596C>T | XP_011523125.1:n.1391-1596C>T | |
| NM_000250.2:c.1365+277C>T MANE Select | NP_000241.1:n.1365+277C>T |