gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10461903 (EAS)
Genomes Max Group AF
0.10461903 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.41761944G>A , CM000675.2:g.41761944G>A | GRCh38 |
| NC_000013.10:g.42336080G>A , CM000675.1:g.42336080G>A | GRCh37 |
| NC_000013.9:g.41234080G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379310.8:c.2350-740C>T MANE Select | ENSP00000368612.3:n.2350-740C>T | |
| ENST00000281496.6:c.2350-740C>T | ENSP00000281496.6:n.2350-740C>T | |
| ENST00000379310.7:c.2350-740C>T | ENSP00000368612.3:n.2350-740C>T | |
| NM_001009814.1:c.2350-740C>T | NP_001009814.1:n.2350-740C>T | |
| NM_015058.1:c.2350-740C>T | NP_055873.1:n.2350-740C>T | |
| XM_006719791.2:c.1285-740C>T | XP_006719854.1:n.1285-740C>T | |
| XM_011535006.1:c.2062-740C>T | XP_011533308.1:n.2062-740C>T | |
| XM_011535007.1:c.2350-740C>T | XP_011533309.1:n.2350-740C>T | |
| XM_006719791.4:c.1285-740C>T | XP_006719854.1:n.1285-740C>T | |
| XM_011535007.3:c.2350-740C>T | XP_011533309.1:n.2350-740C>T | |
| XM_017020469.2:c.2167-740C>T | XP_016875958.1:n.2167-740C>T | |
| XM_017020470.2:c.2350-740C>T | XP_016875959.1:n.2350-740C>T | |
| XM_017020471.2:c.2350-740C>T | XP_016875960.1:n.2350-740C>T | |
| XM_017020472.1:c.112-740C>T | XP_016875961.1:n.112-740C>T | |
| XM_017020473.1:c.61-740C>T | XP_016875962.1:n.61-740C>T | |
| XM_017020474.2:c.2350-740C>T | XP_016875963.1:n.2350-740C>T | |
| XR_001749518.2:n.3081-740C>T | ||
| NM_015058.2:c.2350-740C>T MANE Select | NP_055873.1:n.2350-740C>T | |
| NM_001009814.2:c.2350-740C>T | NP_001009814.1:n.2350-740C>T |