gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36751129 (AMR)
Genomes Max Group AF
0.38288307 (AMR)
Exomes Max Group AF
0.36022074 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.86022231C>A , CM000663.2:g.86022231C>A | GRCh38 |
| NC_000001.10:g.86487914C>A , CM000663.1:g.86487914C>A | GRCh37 |
| NC_000001.9:g.86260502C>A | NCBI36 |
| NG_053093.1:g.139806G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370571.7:c.2256+9G>T MANE Select | ENSP00000359603.2:n.2256+9G>T | |
| ENST00000370571.6:c.2256+9G>T | ENSP00000359603.2:n.2256+9G>T | |
| ENST00000426639.5:c.2256+9G>T | ENSP00000409515.1:n.2256+9G>T | |
| NM_152890.5:c.2256+9G>T | NP_690850.2:n.2256+9G>T | |
| XM_011541190.1:c.2256+9G>T | XP_011539492.1:n.2256+9G>T | |
| XM_011541191.1:c.2256+9G>T | XP_011539493.1:n.2256+9G>T | |
| XM_011541192.1:c.156+9G>T | XP_011539494.1:n.156+9G>T | |
| NM_001349955.1:c.156+9G>T | NP_001336884.1:n.156+9G>T | |
| NM_152890.6:c.2256+9G>T | NP_690850.2:n.2256+9G>T | |
| NR_146340.1:n.2475+9G>T | ||
| NR_146341.1:n.2544+9G>T | ||
| NR_146342.1:n.2548+9G>T | ||
| NR_146343.1:n.2331+9G>T | ||
| NR_146344.1:n.2331+9G>T | ||
| NR_146345.1:n.2331+9G>T | ||
| XM_017000924.2:c.2256+9G>T | XP_016856413.1:n.2256+9G>T | |
| XM_017000925.2:c.2256+9G>T | XP_016856414.1:n.2256+9G>T | |
| XM_017000926.1:c.2256+9G>T | XP_016856415.1:n.2256+9G>T | |
| XM_017000927.1:c.2256+9G>T | XP_016856416.1:n.2256+9G>T | |
| XM_017000930.1:c.2256+9G>T | XP_016856419.1:n.2256+9G>T | |
| XR_001737092.1:n.2623+9G>T | ||
| NM_152890.7:c.2256+9G>T MANE Select | NP_690850.2:n.2256+9G>T | |
| NR_146340.2:n.2423+9G>T | ||
| NR_146341.2:n.2620+9G>T | ||
| NR_146342.2:n.2624+9G>T |