dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06411341 (NFE)
Genomes Max Group AF
0.06178045 (NFE)
Exomes Max Group AF
0.06436812 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173932328A>G , CM000667.2:g.173932328A>G | GRCh38 |
| NC_000005.9:g.173359331A>G , CM000667.1:g.173359331A>G | GRCh37 |
| NC_000005.8:g.173291937A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265085.10:c.1208-122A>G MANE Select | ENSP00000265085.5:n.1208-122A>G | |
| ENST00000657000.1:c.-20-12639A>G | ENSP00000499433.1:n.-20-12639A>G | |
| ENST00000265085.9:c.1208-122A>G | ENSP00000265085.5:n.1208-122A>G | |
| ENST00000334035.9:c.1208-10698A>G | ENSP00000334533.5:n.1208-10698A>G | |
| ENST00000517880.1:c.62-12639A>G | ENSP00000427990.1:n.62-12639A>G | |
| ENST00000519152.5:c.265-122A>G | ||
| ENST00000519467.1:n.40-10698A>G | ||
| ENST00000519835.5:c.1208-12639A>G | ENSP00000429048.1:n.1208-12639A>G | |
| ENST00000520867.5:c.1208-12639A>G | ENSP00000429092.1:n.1208-12639A>G | |
| ENST00000522336.5:c.62-122A>G | ENSP00000430345.1:n.62-122A>G | |
| NM_001308189.1:c.1208-10698A>G | NP_001295118.1:n.1208-10698A>G | |
| NM_001308191.1:c.1208-12639A>G | NP_001295120.1:n.1208-12639A>G | |
| NM_001308192.1:c.62-122A>G | NP_001295121.1:n.62-122A>G | |
| NM_001308193.1:c.62-12639A>G | NP_001295122.1:n.62-12639A>G | |
| NM_030627.2:c.1208-122A>G | NP_085130.2:n.1208-122A>G | |
| NM_030627.3:c.1208-122A>G | NP_085130.2:n.1208-122A>G | |
| XM_005265994.1:c.1208-122A>G | XP_005266051.1:n.1208-122A>G | |
| XM_011534660.1:c.1208-122A>G | XP_011532962.1:n.1208-122A>G | |
| XM_011534661.1:c.1208-10556A>G | XP_011532963.1:n.1208-10556A>G | |
| XM_011534660.2:c.1208-122A>G | XP_011532962.1:n.1208-122A>G | |
| XM_011534661.2:c.1208-10556A>G | XP_011532963.1:n.1208-10556A>G | |
| NM_030627.4:c.1208-122A>G MANE Select | NP_085130.2:n.1208-122A>G | |
| NM_001308189.2:c.1208-10698A>G | NP_001295118.1:n.1208-10698A>G | |
| NM_001308191.2:c.1208-12639A>G | NP_001295120.1:n.1208-12639A>G | |
| NM_001308192.2:c.62-122A>G | NP_001295121.1:n.62-122A>G | |
| NM_001308193.2:c.62-12639A>G | NP_001295122.1:n.62-12639A>G |