dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14977195 (AFR)
Genomes Max Group AF
0.14977195 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140531330C>A , CM000669.2:g.140531330C>A | GRCh38 |
| NC_000007.13:g.140231130C>A , CM000669.1:g.140231130C>A | GRCh37 |
| NC_000007.12:g.139877599C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496613.6:c.2328-3835G>T MANE Select | ENSP00000419654.1:n.2328-3835G>T | |
| ENST00000275884.10:c.2328-3835G>T | ENSP00000275884.6:n.2328-3835G>T | |
| ENST00000461883.5:c.2328-3893G>T | ENSP00000417673.1:n.2328-3893G>T | |
| ENST00000469373.5:c.369-3893G>T | ENSP00000420145.1:n.369-3893G>T | |
| ENST00000496613.5:c.2328-3835G>T | ENSP00000419654.1:n.2328-3835G>T | |
| ENST00000537639.5:c.2328-3835G>T | ENSP00000442245.1:n.2328-3835G>T | |
| NM_015689.3:c.2328-3835G>T | NP_056504.3:n.2328-3835G>T | |
| XM_005249976.3:c.2328-3835G>T | XP_005250033.1:n.2328-3835G>T | |
| XM_005249977.2:c.2328-3835G>T | XP_005250034.1:n.2328-3835G>T | |
| XM_005249978.3:c.2328-3835G>T | XP_005250035.1:n.2328-3835G>T | |
| XM_011516052.1:c.2328-3835G>T | XP_011514354.1:n.2328-3835G>T | |
| XM_011516053.1:c.2328-3835G>T | XP_011514355.1:n.2328-3835G>T | |
| XM_011516054.1:c.2325-3835G>T | XP_011514356.1:n.2325-3835G>T | |
| NM_001318052.1:c.2328-3835G>T | NP_001304981.1:n.2328-3835G>T | |
| NM_001362678.1:c.2328-3835G>T | NP_001349607.1:n.2328-3835G>T | |
| NM_015689.4:c.2328-3835G>T | NP_056504.3:n.2328-3835G>T | |
| NR_134477.1:n.2473-3893G>T | ||
| XM_011516053.2:c.2328-3835G>T | XP_011514355.1:n.2328-3835G>T | |
| XM_011516054.2:c.2325-3835G>T | XP_011514356.1:n.2325-3835G>T | |
| XM_017011989.1:c.2328-3835G>T | XP_016867478.1:n.2328-3835G>T | |
| NM_015689.5:c.2328-3835G>T MANE Select | NP_056504.3:n.2328-3835G>T | |
| NM_001318052.2:c.2328-3835G>T | NP_001304981.1:n.2328-3835G>T | |
| NM_001362678.2:c.2328-3835G>T | NP_001349607.1:n.2328-3835G>T |