gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08506769 (MID)
Genomes Max Group AF
0.08376546 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104775989G>A , CM000668.2:g.104775989G>A | GRCh38 |
| NC_000006.11:g.105223864G>A , CM000668.1:g.105223864G>A | GRCh37 |
| NC_000006.10:g.105330557G>A | NCBI36 |
| NG_046782.1:g.88931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262903.9:c.1864+752C>T MANE Select | ENSP00000262903.4:n.1864+752C>T | |
| ENST00000262903.8:c.1864+752C>T | ENSP00000262903.4:n.1864+752C>T | |
| ENST00000369125.6:c.1566+8097C>T | ENSP00000358121.2:n.1566+8097C>T | |
| ENST00000369127.8:n.2885+752C>T | ||
| ENST00000416605.6:c.*1526+752C>T | ENSP00000392425.2:n.*1526+752C>T | |
| ENST00000517424.1:c.656+752C>T | ||
| ENST00000517995.5:n.378+752C>T | ||
| ENST00000518402.5:c.167+752C>T | ||
| ENST00000518503.5:c.311+752C>T | ||
| NM_020771.3:c.1864+752C>T | NP_065822.2:n.1864+752C>T | |
| NR_104424.1:n.2340+752C>T | ||
| XM_006715528.2:c.1762+752C>T | XP_006715591.1:n.1762+752C>T | |
| XM_006715529.2:c.1732+752C>T | XP_006715592.1:n.1732+752C>T | |
| XM_006715530.2:c.1360+752C>T | XP_006715593.1:n.1360+752C>T | |
| XM_011535989.1:c.1378+752C>T | XP_011534291.1:n.1378+752C>T | |
| XM_011535990.1:c.1360+752C>T | XP_011534292.1:n.1360+752C>T | |
| XM_011535991.1:c.1282+752C>T | XP_011534293.1:n.1282+752C>T | |
| XR_942529.1:n.2141+752C>T | ||
| NM_001321080.1:c.1732+752C>T | NP_001308009.1:n.1732+752C>T | |
| NM_001321083.1:c.1762+752C>T | NP_001308012.1:n.1762+752C>T | |
| NM_001321084.1:c.1360+752C>T | NP_001308013.1:n.1360+752C>T | |
| NM_001350554.1:c.1630+752C>T | NP_001337483.1:n.1630+752C>T | |
| NM_001350555.1:c.1573+752C>T | NP_001337484.1:n.1573+752C>T | |
| NM_001350556.1:c.1378+752C>T | NP_001337485.1:n.1378+752C>T | |
| NM_001350557.1:c.1360+752C>T | NP_001337486.1:n.1360+752C>T | |
| NM_001350558.1:c.1360+752C>T | NP_001337487.1:n.1360+752C>T | |
| NM_001350559.1:c.1282+752C>T | NP_001337488.1:n.1282+752C>T | |
| NM_001350560.1:c.1081+752C>T | NP_001337489.1:n.1081+752C>T | |
| NR_146787.1:n.1969+752C>T | ||
| NR_146788.1:n.2139+752C>T | ||
| NR_146789.1:n.2128+752C>T | ||
| NR_146790.1:n.2145+752C>T | ||
| NR_146791.1:n.2246+752C>T | ||
| NR_146792.1:n.2222+752C>T | ||
| XM_017011114.2:c.1630+752C>T | XP_016866603.1:n.1630+752C>T | |
| XM_017011119.2:c.1360+752C>T | XP_016866608.1:n.1360+752C>T | |
| XM_017011122.1:c.1282+752C>T | XP_016866611.1:n.1282+752C>T | |
| XR_001743536.1:n.2141+752C>T | ||
| XR_001743538.1:n.2233+752C>T | ||
| XR_942529.2:n.2141+752C>T | ||
| NM_020771.4:c.1864+752C>T MANE Select | NP_065822.2:n.1864+752C>T | |
| NM_001321080.2:c.1732+752C>T | NP_001308009.1:n.1732+752C>T | |
| NM_001321083.2:c.1762+752C>T | NP_001308012.1:n.1762+752C>T | |
| NM_001321084.2:c.1360+752C>T | NP_001308013.1:n.1360+752C>T | |
| NM_001350554.2:c.1630+752C>T | NP_001337483.1:n.1630+752C>T | |
| NM_001350555.2:c.1573+752C>T | NP_001337484.1:n.1573+752C>T | |
| NM_001350556.2:c.1378+752C>T | NP_001337485.1:n.1378+752C>T | |
| NM_001350557.2:c.1360+752C>T | NP_001337486.1:n.1360+752C>T | |
| NM_001350558.2:c.1360+752C>T | NP_001337487.1:n.1360+752C>T | |
| NM_001350559.2:c.1282+752C>T | NP_001337488.1:n.1282+752C>T | |
| NM_001350560.2:c.1081+752C>T | NP_001337489.1:n.1081+752C>T | |
| NR_104424.2:n.2340+752C>T | ||
| NR_146787.2:n.1969+752C>T | ||
| NR_146788.2:n.2139+752C>T | ||
| NR_146789.2:n.2128+752C>T | ||
| NR_146790.2:n.2145+752C>T | ||
| NR_146791.2:n.2246+752C>T | ||
| NR_146792.2:n.2222+752C>T |