gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10863224 (MID)
Genomes Max Group AF
0.08287044 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102575280C>T , CM000666.2:g.102575280C>T | GRCh38 |
| NC_000004.11:g.103496437C>T , CM000666.1:g.103496437C>T | GRCh37 |
| NC_000004.10:g.103715475C>T | NCBI36 |
| NG_050628.1:g.78952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.432-1596C>T | ENSP00000426147.2:n.432-1596C>T | |
| ENST00000509165.2:c.408-1596C>T | ENSP00000423877.2:n.408-1596C>T | |
| ENST00000697793.1:n.506-1596C>T | ||
| ENST00000697794.1:c.*49-1596C>T | ENSP00000513443.1:n.*49-1596C>T | |
| ENST00000226574.9:c.408-1596C>T MANE Select | ENSP00000226574.4:n.408-1596C>T | |
| ENST00000652569.1:c.322-1596C>T | ||
| ENST00000652619.1:c.429-1596C>T | ENSP00000499031.1:n.429-1596C>T | |
| ENST00000226574.8:c.408-1596C>T | ENSP00000226574.4:n.408-1596C>T | |
| ENST00000394820.8:c.405-1596C>T | ENSP00000378297.4:n.405-1596C>T | |
| ENST00000505458.5:c.405-1596C>T | ENSP00000424790.1:n.405-1596C>T | |
| ENST00000507079.5:c.432-1596C>T | ENSP00000426147.1:n.432-1596C>T | |
| ENST00000509165.1:c.408-1596C>T | ENSP00000423877.1:n.408-1596C>T | |
| ENST00000510638.1:n.252-1596C>T | ||
| ENST00000513803.5:n.291-1596C>T | ||
| NM_001165412.1:c.405-1596C>T | NP_001158884.1:n.405-1596C>T | |
| NM_003998.3:c.408-1596C>T | NP_003989.2:n.408-1596C>T | |
| XM_011532006.1:c.429-1596C>T | XP_011530308.1:n.429-1596C>T | |
| XM_011532007.1:c.405-1596C>T | XP_011530309.1:n.405-1596C>T | |
| XM_011532008.1:c.408-1596C>T | XP_011530310.1:n.408-1596C>T | |
| XM_011532009.1:c.12-1596C>T | XP_011530311.1:n.12-1596C>T | |
| XR_244680.3:n.1391+2179G>A | ||
| XR_939028.1:n.1391+2179G>A | ||
| XR_939029.1:n.1391+2179G>A | ||
| NM_001319226.1:c.405-1596C>T | NP_001306155.1:n.405-1596C>T | |
| XM_011532006.2:c.429-1596C>T | XP_011530308.1:n.429-1596C>T | |
| XM_024454067.1:c.432-1596C>T | XP_024309835.1:n.432-1596C>T | |
| XM_024454068.1:c.408-1596C>T | XP_024309836.1:n.408-1596C>T | |
| XM_024454069.1:c.432-1596C>T | XP_024309837.1:n.432-1596C>T | |
| NM_003998.4:c.408-1596C>T MANE Select | NP_003989.2:n.408-1596C>T | |
| NM_001165412.2:c.405-1596C>T | NP_001158884.1:n.405-1596C>T | |
| NM_001319226.2:c.405-1596C>T | NP_001306155.1:n.405-1596C>T | |
| NM_001382625.1:c.408-1596C>T | NP_001369554.1:n.408-1596C>T | |
| NM_001382626.1:c.408-1596C>T | NP_001369555.1:n.408-1596C>T | |
| NM_001382627.1:c.405-1596C>T | NP_001369556.1:n.405-1596C>T | |
| NM_001382628.1:c.366-1596C>T | NP_001369557.1:n.366-1596C>T |