ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27484797 (AFR)
Genomes Max Group AF
0.27484797 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124055231T>G , CM000665.2:g.124055231T>G | GRCh38 |
| NC_000003.11:g.123774078T>G , CM000665.1:g.123774078T>G | GRCh37 |
| NC_000003.10:g.125256768T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682506.1:c.73+21418T>G MANE Select | ENSP00000508359.1:n.73+21418T>G | |
| ENST00000682861.1:c.73+21418T>G | ENSP00000506756.1:n.73+21418T>G | |
| ENST00000683571.1:c.73+21418T>G | ENSP00000506888.1:n.73+21418T>G | |
| XM_006713810.2:c.73+21418T>G | XP_006713873.1:n.73+21418T>G | |
| XM_006713811.2:c.73+21418T>G | XP_006713874.1:n.73+21418T>G | |
| XM_006713812.2:c.73+21418T>G | XP_006713875.1:n.73+21418T>G | |
| XM_006713813.2:c.73+21418T>G | XP_006713876.1:n.73+21418T>G | |
| XM_006713814.2:c.73+21418T>G | XP_006713877.1:n.73+21418T>G | |
| XM_006713815.2:c.73+21418T>G | XP_006713878.1:n.73+21418T>G | |
| XM_006713817.2:c.73+21418T>G | XP_006713880.1:n.73+21418T>G | |
| XM_011513279.1:c.73+21418T>G | XP_011511581.1:n.73+21418T>G | |
| XM_011513280.1:c.73+21418T>G | XP_011511582.1:n.73+21418T>G | |
| XM_011513282.1:c.73+21418T>G | XP_011511584.1:n.73+21418T>G | |
| XM_011513283.1:c.73+21418T>G | XP_011511585.1:n.73+21418T>G | |
| XM_011513284.1:c.73+21418T>G | XP_011511586.1:n.73+21418T>G | |
| XM_011513285.1:c.73+21418T>G | XP_011511587.1:n.73+21418T>G | |
| XM_006713810.3:c.73+21418T>G | XP_006713873.1:n.73+21418T>G | |
| XM_006713811.3:c.73+21418T>G | XP_006713874.1:n.73+21418T>G | |
| XM_006713812.3:c.73+21418T>G | XP_006713875.1:n.73+21418T>G | |
| XM_006713813.3:c.73+21418T>G | XP_006713876.1:n.73+21418T>G | |
| XM_006713814.3:c.73+21418T>G | XP_006713877.1:n.73+21418T>G | |
| XM_006713815.3:c.73+21418T>G | XP_006713878.1:n.73+21418T>G | |
| XM_011513279.2:c.73+21418T>G | XP_011511581.1:n.73+21418T>G | |
| XM_011513280.2:c.73+21418T>G | XP_011511582.1:n.73+21418T>G | |
| XM_011513283.2:c.73+21418T>G | XP_011511585.1:n.73+21418T>G | |
| XM_011513285.2:c.73+21418T>G | XP_011511587.1:n.73+21418T>G | |
| XM_017007429.1:c.73+21418T>G | XP_016862918.1:n.73+21418T>G | |
| XM_017007430.1:c.73+21418T>G | XP_016862919.1:n.73+21418T>G | |
| XM_017007431.1:c.73+21418T>G | XP_016862920.1:n.73+21418T>G | |
| XM_017007432.1:c.73+21418T>G | XP_016862921.1:n.73+21418T>G | |
| XM_017007433.2:c.73+21418T>G | XP_016862922.1:n.73+21418T>G | |
| XM_017007434.2:c.73+21418T>G | XP_016862923.1:n.73+21418T>G | |
| XM_017007435.2:c.73+21418T>G | XP_016862924.1:n.73+21418T>G | |
| XM_024453811.1:c.73+21418T>G | XP_024309579.1:n.73+21418T>G | |
| XR_001740356.1:n.473+21418T>G | ||
| XR_001740357.1:n.473+21418T>G | ||
| XR_001740358.1:n.473+21418T>G | ||
| NM_001388417.1:c.73+21418T>G | NP_001375346.1:n.73+21418T>G | |
| NM_001388418.1:c.73+21418T>G | NP_001375347.1:n.73+21418T>G | |
| NM_001388419.1:c.73+21418T>G MANE Select | NP_001375348.1:n.73+21418T>G |