Linked Data
dbSNP Id:
rs6438833
gnomAD v2:
3-123925595-T-A
gnomAD v3:
3-124206748-T-A
gnomAD v4:
3-124206748-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124206748T>A , CM000665.2:g.124206748T>A | GRCh38 |
| NC_000003.11:g.123925595T>A , CM000665.1:g.123925595T>A | GRCh37 |
| NC_000003.10:g.125408285T>A | NCBI36 |
| NG_012742.1:g.117038T>A | |
| NG_012742.2:g.117038T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448253.6:n.156-21242T>A | ||
| ENST00000682506.1:c.74-21242T>A MANE Select | ENSP00000508359.1:n.74-21242T>A | |
| ENST00000683571.1:c.74-21242T>A | ENSP00000506888.1:n.74-21242T>A | |
| ENST00000683592.1:n.151-21242T>A | ||
| ENST00000684186.1:c.68-21242T>A | ENSP00000507078.1:n.68-21242T>A | |
| ENST00000684276.1:c.68-21242T>A | ENSP00000508068.1:n.68-21242T>A | |
| ENST00000240874.7:c.68-21242T>A | ENSP00000240874.3:n.68-21242T>A | |
| ENST00000360013.7:c.68-21242T>A | ENSP00000353109.3:n.68-21242T>A | |
| ENST00000448253.5:c.151-21242T>A | ||
| ENST00000460856.5:c.68-21242T>A | ENSP00000418611.1:n.68-21242T>A | |
| NM_001024660.3:c.68-21242T>A | NP_001019831.2:n.68-21242T>A | |
| NM_003947.4:c.68-21242T>A | NP_003938.1:n.68-21242T>A | |
| XM_006713810.2:c.74-21242T>A | XP_006713873.1:n.74-21242T>A | |
| XM_006713811.2:c.74-21242T>A | XP_006713874.1:n.74-21242T>A | |
| XM_006713812.2:c.74-21242T>A | XP_006713875.1:n.74-21242T>A | |
| XM_006713813.2:c.74-21242T>A | XP_006713876.1:n.74-21242T>A | |
| XM_006713814.2:c.74-21242T>A | XP_006713877.1:n.74-21242T>A | |
| XM_006713815.2:c.74-21242T>A | XP_006713878.1:n.74-21242T>A | |
| XM_006713817.2:c.74-21242T>A | XP_006713880.1:n.74-21242T>A | |
| XM_011513279.1:c.74-21242T>A | XP_011511581.1:n.74-21242T>A | |
| XM_011513280.1:c.74-21242T>A | XP_011511582.1:n.74-21242T>A | |
| XM_011513281.1:c.68-21242T>A | XP_011511583.1:n.68-21242T>A | |
| XM_011513282.1:c.74-21242T>A | XP_011511584.1:n.74-21242T>A | |
| XM_011513283.1:c.74-21242T>A | XP_011511585.1:n.74-21242T>A | |
| XM_011513284.1:c.74-21242T>A | XP_011511586.1:n.74-21242T>A | |
| XM_011513285.1:c.74-21242T>A | XP_011511587.1:n.74-21242T>A | |
| XM_011513286.1:c.68-21242T>A | XP_011511588.1:n.68-21242T>A | |
| NM_001024660.4:c.68-21242T>A | NP_001019831.2:n.68-21242T>A | |
| NM_001322988.1:c.68-21242T>A | NP_001309917.1:n.68-21242T>A | |
| NM_001322989.1:c.68-21242T>A | NP_001309918.1:n.68-21242T>A | |
| NM_001322990.1:c.68-21242T>A | NP_001309919.1:n.68-21242T>A | |
| NM_001322991.1:c.68-21242T>A | NP_001309920.1:n.68-21242T>A | |
| NM_001322992.1:c.68-21242T>A | NP_001309921.1:n.68-21242T>A | |
| NM_003947.5:c.68-21242T>A | NP_003938.1:n.68-21242T>A | |
| XM_006713810.3:c.74-21242T>A | XP_006713873.1:n.74-21242T>A | |
| XM_006713811.3:c.74-21242T>A | XP_006713874.1:n.74-21242T>A | |
| XM_006713812.3:c.74-21242T>A | XP_006713875.1:n.74-21242T>A | |
| XM_006713813.3:c.74-21242T>A | XP_006713876.1:n.74-21242T>A | |
| XM_006713814.3:c.74-21242T>A | XP_006713877.1:n.74-21242T>A | |
| XM_006713815.3:c.74-21242T>A | XP_006713878.1:n.74-21242T>A | |
| XM_011513279.2:c.74-21242T>A | XP_011511581.1:n.74-21242T>A | |
| XM_011513280.2:c.74-21242T>A | XP_011511582.1:n.74-21242T>A | |
| XM_011513281.3:c.68-21242T>A | XP_011511583.1:n.68-21242T>A | |
| XM_011513283.2:c.74-21242T>A | XP_011511585.1:n.74-21242T>A | |
| XM_011513285.2:c.74-21242T>A | XP_011511587.1:n.74-21242T>A | |
| XM_017007429.1:c.74-21242T>A | XP_016862918.1:n.74-21242T>A | |
| XM_017007430.1:c.74-21242T>A | XP_016862919.1:n.74-21242T>A | |
| XM_017007431.1:c.74-21242T>A | XP_016862920.1:n.74-21242T>A | |
| XM_017007432.1:c.74-21242T>A | XP_016862921.1:n.74-21242T>A | |
| XM_017007433.2:c.74-21242T>A | XP_016862922.1:n.74-21242T>A | |
| XM_017007434.2:c.74-21242T>A | XP_016862923.1:n.74-21242T>A | |
| XM_017007435.2:c.74-21242T>A | XP_016862924.1:n.74-21242T>A | |
| XM_024453811.1:c.74-21242T>A | XP_024309579.1:n.74-21242T>A | |
| XR_001740356.1:n.474-21242T>A | ||
| XR_001740357.1:n.474-21242T>A | ||
| XR_001740358.1:n.474-21242T>A | ||
| NM_001322989.2:c.68-21242T>A | NP_001309918.1:n.68-21242T>A | |
| NM_001322990.2:c.68-21242T>A | NP_001309919.1:n.68-21242T>A | |
| NM_001322991.2:c.68-21242T>A | NP_001309920.1:n.68-21242T>A | |
| NM_001322992.2:c.68-21242T>A | NP_001309921.1:n.68-21242T>A | |
| NM_003947.6:c.68-21242T>A | NP_003938.1:n.68-21242T>A | |
| NM_001024660.5:c.68-21242T>A | NP_001019831.2:n.68-21242T>A | |
| NM_001322988.2:c.68-21242T>A | NP_001309917.1:n.68-21242T>A | |
| NM_001388417.1:c.74-21242T>A | NP_001375346.1:n.74-21242T>A | |
| NM_001388418.1:c.74-21242T>A | NP_001375347.1:n.74-21242T>A | |
| NM_001388419.1:c.74-21242T>A MANE Select | NP_001375348.1:n.74-21242T>A |