gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47507772 (NFE)
Genomes Max Group AF
0.47507772 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148821919C>T , CM000669.2:g.148821919C>T | GRCh38 |
| NC_000007.13:g.148519011C>T , CM000669.1:g.148519011C>T | GRCh37 |
| NC_000007.12:g.148149944C>T | NCBI36 |
| NG_032043.1:g.67431G>A , LRG_531:g.67431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.1041-2232G>A | ||
| ENST00000682317.1:c.776-2232G>A | ENSP00000508286.1:n.776-2232G>A | |
| ENST00000682401.1:n.908-2232G>A | ||
| ENST00000683292.1:c.566-2232G>A | ENSP00000507503.1:n.566-2232G>A | |
| ENST00000683744.1:c.893-2232G>A | ENSP00000506949.1:n.893-2232G>A | |
| ENST00000684300.1:c.776-2232G>A | ENSP00000508407.1:n.776-2232G>A | |
| ENST00000320356.7:c.908-2232G>A MANE Select | ENSP00000320147.2:n.908-2232G>A | |
| ENST00000320356.6:c.908-2232G>A | ENSP00000320147.2:n.908-2232G>A | |
| ENST00000350995.6:c.776-2232G>A | ENSP00000223193.2:n.776-2232G>A | |
| ENST00000460911.5:c.893-2232G>A | ENSP00000419711.1:n.893-2232G>A | |
| ENST00000476773.5:c.866-2232G>A | ENSP00000419050.1:n.866-2232G>A | |
| ENST00000478654.5:c.866-2232G>A | ENSP00000417062.1:n.866-2232G>A | |
| ENST00000483012.1:c.*637-2232G>A | ENSP00000417704.1:n.*637-2232G>A | |
| ENST00000483967.5:c.866-2232G>A | ENSP00000419856.1:n.866-2232G>A | |
| ENST00000492143.5:c.893-2232G>A | ENSP00000417377.1:n.893-2232G>A | |
| ENST00000498186.5:n.1024-2232G>A | ||
| NM_001203247.1:c.893-2232G>A | NP_001190176.1:n.893-2232G>A | |
| NM_001203248.1:c.866-2232G>A | NP_001190177.1:n.866-2232G>A | |
| NM_001203249.1:c.866-2232G>A | NP_001190178.1:n.866-2232G>A | |
| NM_004456.4:c.908-2232G>A , LRG_531t1:c.908-2232G>A | NP_004447.2:n.908-2232G>A | |
| NM_152998.2:c.776-2232G>A | NP_694543.1:n.776-2232G>A | |
| XM_005249962.3:c.917-2232G>A | XP_005250019.1:n.917-2232G>A | |
| XM_005249963.3:c.890-2232G>A | XP_005250020.1:n.890-2232G>A | |
| XM_005249964.3:c.890-2232G>A | XP_005250021.1:n.890-2232G>A | |
| XM_011515883.1:c.932-2232G>A | XP_011514185.1:n.932-2232G>A | |
| XM_011515884.1:c.908-2232G>A | XP_011514186.1:n.908-2232G>A | |
| XM_011515885.1:c.905-2232G>A | XP_011514187.1:n.905-2232G>A | |
| XM_011515886.1:c.884-2232G>A | XP_011514188.1:n.884-2232G>A | |
| XM_011515887.1:c.881-2232G>A | XP_011514189.1:n.881-2232G>A | |
| XM_011515888.1:c.881-2232G>A | XP_011514190.1:n.881-2232G>A | |
| XM_011515889.1:c.842-2232G>A | XP_011514191.1:n.842-2232G>A | |
| XM_011515890.1:c.815-2232G>A | XP_011514192.1:n.815-2232G>A | |
| XM_011515891.1:c.809-2232G>A | XP_011514193.1:n.809-2232G>A | |
| XM_011515892.1:c.932-2232G>A | XP_011514194.1:n.932-2232G>A | |
| XM_011515893.1:c.800-2232G>A | XP_011514195.1:n.800-2232G>A | |
| XM_011515894.1:c.791-2232G>A | XP_011514196.1:n.791-2232G>A | |
| XM_011515895.1:c.788-2232G>A | XP_011514197.1:n.788-2232G>A | |
| XM_011515896.1:c.800-2232G>A | XP_011514198.1:n.800-2232G>A | |
| XM_011515897.1:c.581-2232G>A | XP_011514199.1:n.581-2232G>A | |
| XM_011515898.1:c.581-2232G>A | XP_011514200.1:n.581-2232G>A | |
| XM_011515899.1:c.932-2232G>A | XP_011514201.1:n.932-2232G>A | |
| XM_011515900.1:c.932-2232G>A | XP_011514202.1:n.932-2232G>A | |
| XM_011515901.1:c.932-2232G>A | XP_011514203.1:n.932-2232G>A | |
| XM_011515902.1:c.932-2232G>A | XP_011514204.1:n.932-2232G>A | |
| XR_928101.1:n.516-2032C>T | ||
| XR_928102.1:n.723-2032C>T | ||
| XM_005249962.4:c.917-2232G>A | XP_005250019.1:n.917-2232G>A | |
| XM_005249963.4:c.890-2232G>A | XP_005250020.1:n.890-2232G>A | |
| XM_005249964.4:c.890-2232G>A | XP_005250021.1:n.890-2232G>A | |
| XM_011515883.2:c.932-2232G>A | XP_011514185.1:n.932-2232G>A | |
| XM_011515884.2:c.908-2232G>A | XP_011514186.1:n.908-2232G>A | |
| XM_011515885.2:c.905-2232G>A | XP_011514187.1:n.905-2232G>A | |
| XM_011515886.2:c.884-2232G>A | XP_011514188.1:n.884-2232G>A | |
| XM_011515887.3:c.881-2232G>A | XP_011514189.1:n.881-2232G>A | |
| XM_011515888.2:c.881-2232G>A | XP_011514190.1:n.881-2232G>A | |
| XM_011515889.2:c.842-2232G>A | XP_011514191.1:n.842-2232G>A | |
| XM_011515890.2:c.815-2232G>A | XP_011514192.1:n.815-2232G>A | |
| XM_011515891.3:c.809-2232G>A | XP_011514193.1:n.809-2232G>A | |
| XM_011515892.2:c.932-2232G>A | XP_011514194.1:n.932-2232G>A | |
| XM_011515893.2:c.800-2232G>A | XP_011514195.1:n.800-2232G>A | |
| XM_011515894.2:c.791-2232G>A | XP_011514196.1:n.791-2232G>A | |
| XM_011515895.2:c.788-2232G>A | XP_011514197.1:n.788-2232G>A | |
| XM_011515896.2:c.800-2232G>A | XP_011514198.1:n.800-2232G>A | |
| XM_011515897.2:c.581-2232G>A | XP_011514199.1:n.581-2232G>A | |
| XM_011515898.2:c.581-2232G>A | XP_011514200.1:n.581-2232G>A | |
| XM_011515899.3:c.932-2232G>A | XP_011514201.1:n.932-2232G>A | |
| XM_011515901.3:c.932-2232G>A | XP_011514203.1:n.932-2232G>A | |
| XM_017011817.2:c.932-2232G>A | XP_016867306.1:n.932-2232G>A | |
| XM_017011818.1:c.869-2232G>A | XP_016867307.1:n.869-2232G>A | |
| XM_017011819.1:c.917-2232G>A | XP_016867308.1:n.917-2232G>A | |
| XM_017011820.2:c.764-2232G>A | XP_016867309.1:n.764-2232G>A | |
| XM_017011821.1:c.566-2232G>A | XP_016867310.1:n.566-2232G>A | |
| XM_024446680.1:c.794-2232G>A | XP_024302448.1:n.794-2232G>A | |
| XR_001744581.1:n.3547-2232G>A | ||
| XR_002956413.1:n.3530-2232G>A | ||
| XR_002956414.1:n.3547-2232G>A | ||
| NM_001203247.2:c.893-2232G>A | NP_001190176.1:n.893-2232G>A | |
| NM_001203248.2:c.866-2232G>A | NP_001190177.1:n.866-2232G>A | |
| NM_001203249.2:c.866-2232G>A | NP_001190178.1:n.866-2232G>A | |
| NM_004456.5:c.908-2232G>A MANE Select | NP_004447.2:n.908-2232G>A | |
| NM_152998.3:c.776-2232G>A | NP_694543.1:n.776-2232G>A |