gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03801017 (NFE)
Genomes Max Group AF
0.03801017 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69774942A>G , CM000665.2:g.69774942A>G | GRCh38 |
| NC_000003.11:g.69824093A>G , CM000665.1:g.69824093A>G | GRCh37 |
| NC_000003.10:g.69906783A>G | NCBI36 |
| NG_011631.1:g.40461A>G , LRG_776:g.40461A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687384.1:c.-76-19445A>G | ENSP00000510225.1:n.-76-19445A>G | |
| ENST00000693031.1:c.104+35241A>G | ENSP00000509845.1:n.104+35241A>G | |
| ENST00000352241.9:c.104+35241A>G MANE Select | ENSP00000295600.8:n.104+35241A>G | |
| ENST00000448226.9:c.101+11000A>G | ENSP00000391803.3:n.101+11000A>G | |
| ENST00000642352.1:c.104+35241A>G | ENSP00000494105.1:n.104+35241A>G | |
| ENST00000328528.10:c.101+11000A>G | ENSP00000327867.6:n.101+11000A>G | |
| ENST00000352241.8:c.104+35241A>G | ENSP00000295600.7:n.104+35241A>G | |
| ENST00000429090.5:c.-277-3876A>G | ENSP00000407620.1:n.-277-3876A>G | |
| ENST00000433517.5:c.-53+12153A>G | ENSP00000411389.1:n.-53+12153A>G | |
| ENST00000448226.6:c.104+35241A>G | ENSP00000391803.2:n.104+35241A>G | |
| ENST00000457080.5:c.101+11000A>G | ENSP00000391276.1:n.101+11000A>G | |
| ENST00000472437.5:c.-53+11250A>G | ENSP00000418845.1:n.-53+11250A>G | |
| ENST00000495741.1:n.220+35241A>G | ||
| NM_001184967.1:c.-53+11250A>G | NP_001171896.1:n.-53+11250A>G | |
| NM_006722.2:c.101+11000A>G | NP_006713.1:n.101+11000A>G | |
| NM_198159.2:c.104+35241A>G | NP_937802.1:n.104+35241A>G | |
| XM_005264754.1:c.104+35241A>G | XP_005264811.1:n.104+35241A>G | |
| XM_006713164.2:c.-92+35241A>G | XP_006713227.1:n.-92+35241A>G | |
| XM_011533722.1:c.104+35241A>G | XP_011532024.1:n.104+35241A>G | |
| XM_011533724.1:c.-53+11250A>G | XP_011532026.1:n.-53+11250A>G | |
| XM_011533725.1:c.104+35241A>G | XP_011532027.1:n.104+35241A>G | |
| XM_011533726.1:c.104+35241A>G | XP_011532028.1:n.104+35241A>G | |
| NM_001354604.1:c.104+35241A>G | NP_001341533.1:n.104+35241A>G | |
| NM_001354605.1:c.104+35241A>G | NP_001341534.1:n.104+35241A>G | |
| NM_001354606.1:c.104+35241A>G | NP_001341535.1:n.104+35241A>G | |
| NM_001354607.1:c.-76-19445A>G | NP_001341536.1:n.-76-19445A>G | |
| NM_001354608.1:c.-92+35241A>G | NP_001341537.1:n.-92+35241A>G | |
| NM_001184967.2:c.-53+11250A>G | NP_001171896.1:n.-53+11250A>G | |
| NM_001354604.2:c.104+35241A>G MANE Select | NP_001341533.1:n.104+35241A>G | |
| NM_001354605.2:c.104+35241A>G | NP_001341534.1:n.104+35241A>G | |
| NM_001354606.2:c.104+35241A>G | NP_001341535.1:n.104+35241A>G | |
| NM_001354607.2:c.-76-19445A>G | NP_001341536.1:n.-76-19445A>G | |
| NM_001354608.2:c.-92+35241A>G | NP_001341537.1:n.-92+35241A>G | |
| NM_198159.3:c.104+35241A>G | NP_937802.1:n.104+35241A>G | |
| NM_006722.3:c.101+11000A>G | NP_006713.1:n.101+11000A>G |