gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38310058 (AFR)
Genomes Max Group AF
0.38310058 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47375103G>A , CM000673.2:g.47375103G>A | GRCh38 |
| NC_000011.9:g.47396654G>A , CM000673.1:g.47396654G>A | GRCh37 |
| NC_000011.8:g.47353230G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713542.1:c.142+530C>T | ENSP00000518838.1:n.142+530C>T | |
| ENST00000713543.1:c.-120+530C>T | ENSP00000518839.1:n.-120+530C>T | |
| ENST00000378538.8:c.142+530C>T MANE Select | ENSP00000367799.4:n.142+530C>T | |
| ENST00000227163.8:c.145+530C>T | ENSP00000227163.4:n.145+530C>T | |
| ENST00000378538.7:c.142+530C>T | ENSP00000367799.3:n.142+530C>T | |
| ENST00000533030.1:c.45+3206C>T | ENSP00000443865.1:n.45+3206C>T | |
| ENST00000533968.1:c.142+530C>T | ENSP00000438846.1:n.142+530C>T | |
| NM_001080547.1:c.145+530C>T | NP_001074016.1:n.145+530C>T | |
| NM_003120.2:c.142+530C>T | NP_003111.2:n.142+530C>T | |
| XM_011520305.1:c.-120+530C>T | XP_011518607.1:n.-120+530C>T | |
| XM_011520306.1:c.-120+530C>T | XP_011518608.1:n.-120+530C>T | |
| XM_011520307.1:c.-120+530C>T | XP_011518609.1:n.-120+530C>T | |
| XM_011520308.1:c.-120+530C>T | XP_011518610.1:n.-120+530C>T | |
| XM_017018173.1:c.-120+530C>T | XP_016873662.1:n.-120+530C>T | |
| NM_001080547.2:c.145+530C>T | NP_001074016.1:n.145+530C>T | |
| NM_003120.3:c.142+530C>T MANE Select | NP_003111.2:n.142+530C>T |