gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78965363 (EAS)
Genomes Max Group AF
0.78965363 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114379270T>C , CM000672.2:g.114379270T>C | GRCh38 |
| NC_000010.10:g.116139029T>C , CM000672.1:g.116139029T>C | GRCh37 |
| NC_000010.9:g.116129019T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696688.1:c.16+25170A>G | ENSP00000512810.1:n.16+25170A>G | |
| ENST00000304129.9:c.16+25170A>G MANE Select | ENSP00000303042.4:n.16+25170A>G | |
| ENST00000304129.8:c.16+25170A>G | ENSP00000303042.4:n.16+25170A>G | |
| ENST00000369271.7:c.16+25170A>G | ENSP00000358276.3:n.16+25170A>G | |
| ENST00000419268.1:c.70+19581A>G | ENSP00000396781.1:n.70+19581A>G | |
| ENST00000483496.1:n.144+14214A>G | ||
| NM_001001936.2:c.16+25170A>G | NP_001001936.1:n.16+25170A>G | |
| NM_001287824.1:c.16+25170A>G | NP_001274753.1:n.16+25170A>G | |
| NM_032550.3:c.16+25170A>G | NP_115939.1:n.16+25170A>G | |
| XM_005270233.3:c.70+19581A>G | XP_005270290.1:n.70+19581A>G | |
| XM_005270237.3:c.16+25170A>G | XP_005270294.1:n.16+25170A>G | |
| XM_005270241.3:c.-377-16098A>G | XP_005270298.1:n.-377-16098A>G | |
| XM_005270242.3:c.-331+25170A>G | XP_005270299.1:n.-331+25170A>G | |
| XM_011540279.1:c.94+25765A>G | XP_011538581.1:n.94+25765A>G | |
| XM_011540280.1:c.94+25765A>G | XP_011538582.1:n.94+25765A>G | |
| XM_011540281.1:c.70+19581A>G | XP_011538583.1:n.70+19581A>G | |
| XM_011540282.1:c.16+25170A>G | XP_011538584.1:n.16+25170A>G | |
| XM_011540283.1:c.94+25765A>G | XP_011538585.1:n.94+25765A>G | |
| XM_011540284.1:c.94+25765A>G | XP_011538586.1:n.94+25765A>G | |
| XM_011540285.1:c.94+25765A>G | XP_011538587.1:n.94+25765A>G | |
| XM_011540286.1:c.94+25765A>G | XP_011538588.1:n.94+25765A>G | |
| XM_011540287.1:c.-377-16098A>G | XP_011538589.1:n.-377-16098A>G | |
| XM_011540288.1:c.94+25765A>G | XP_011538590.1:n.94+25765A>G | |
| XM_011540289.1:c.94+25765A>G | XP_011538591.1:n.94+25765A>G | |
| XM_011540290.1:c.94+25765A>G | XP_011538592.1:n.94+25765A>G | |
| XM_011540291.1:c.94+25765A>G | XP_011538593.1:n.94+25765A>G | |
| NM_001351064.1:c.70+19581A>G | NP_001337993.1:n.70+19581A>G | |
| NM_001351065.1:c.16+25170A>G | NP_001337994.1:n.16+25170A>G | |
| NM_001351066.1:c.16+25170A>G | NP_001337995.1:n.16+25170A>G | |
| NM_001351067.1:c.70+19581A>G | NP_001337996.1:n.70+19581A>G | |
| NM_001351068.1:c.70+19581A>G | NP_001337997.1:n.70+19581A>G | |
| NM_001351069.1:c.16+25170A>G | NP_001337998.1:n.16+25170A>G | |
| NM_001351070.1:c.-377-16098A>G | NP_001337999.1:n.-377-16098A>G | |
| NM_001351071.1:c.-377-16098A>G | NP_001338000.1:n.-377-16098A>G | |
| NM_001351072.1:c.-377-16098A>G | NP_001338001.1:n.-377-16098A>G | |
| NM_001351073.1:c.-377-16098A>G | NP_001338002.1:n.-377-16098A>G | |
| NM_001351074.1:c.16+25170A>G | NP_001338003.1:n.16+25170A>G | |
| NM_001351075.1:c.16+25170A>G | NP_001338004.1:n.16+25170A>G | |
| NM_001351076.1:c.16+25170A>G | NP_001338005.1:n.16+25170A>G | |
| NM_001351077.1:c.16+25170A>G | NP_001338006.1:n.16+25170A>G | |
| NM_001351078.1:c.16+25170A>G | NP_001338007.1:n.16+25170A>G | |
| NM_001351079.1:c.16+25170A>G | NP_001338008.1:n.16+25170A>G | |
| NM_001351080.1:c.16+25170A>G | NP_001338009.1:n.16+25170A>G | |
| XM_005270233.4:c.70+19581A>G | XP_005270290.1:n.70+19581A>G | |
| XM_005270237.5:c.16+25170A>G | XP_005270294.1:n.16+25170A>G | |
| XM_005270241.4:c.-377-16098A>G | XP_005270298.1:n.-377-16098A>G | |
| XM_005270242.4:c.-331+25170A>G | XP_005270299.1:n.-331+25170A>G | |
| XM_017016795.1:c.70+19581A>G | XP_016872284.1:n.70+19581A>G | |
| XM_017016796.1:c.16+25170A>G | XP_016872285.1:n.16+25170A>G | |
| XM_017016797.1:c.16+25170A>G | XP_016872286.1:n.16+25170A>G | |
| XM_017016798.2:c.16+25170A>G | XP_016872287.1:n.16+25170A>G | |
| XM_017016804.2:c.16+25170A>G | XP_016872293.1:n.16+25170A>G | |
| XM_017016810.1:c.70+19581A>G | XP_016872299.1:n.70+19581A>G | |
| XM_017016814.1:c.-377-16098A>G | XP_016872303.1:n.-377-16098A>G | |
| XM_017016818.1:c.16+25170A>G | XP_016872307.1:n.16+25170A>G | |
| XM_017016829.1:c.-415+25170A>G | XP_016872318.1:n.-415+25170A>G | |
| XM_017016830.1:c.-377-16098A>G | XP_016872319.1:n.-377-16098A>G | |
| XM_017016831.1:c.-415+25170A>G | XP_016872320.1:n.-415+25170A>G | |
| NM_001001936.3:c.16+25170A>G MANE Select | NP_001001936.1:n.16+25170A>G | |
| NM_001287824.2:c.16+25170A>G | NP_001274753.1:n.16+25170A>G | |
| NM_001351064.2:c.70+19581A>G | NP_001337993.1:n.70+19581A>G | |
| NM_001351065.2:c.16+25170A>G | NP_001337994.1:n.16+25170A>G | |
| NM_001351066.2:c.16+25170A>G | NP_001337995.1:n.16+25170A>G | |
| NM_001351067.2:c.70+19581A>G | NP_001337996.1:n.70+19581A>G | |
| NM_001351068.2:c.70+19581A>G | NP_001337997.1:n.70+19581A>G | |
| NM_001351069.2:c.16+25170A>G | NP_001337998.1:n.16+25170A>G | |
| NM_001351070.2:c.-377-16098A>G | NP_001337999.1:n.-377-16098A>G | |
| NM_001351071.2:c.-377-16098A>G | NP_001338000.1:n.-377-16098A>G | |
| NM_001351072.2:c.-377-16098A>G | NP_001338001.1:n.-377-16098A>G | |
| NM_001351073.2:c.-377-16098A>G | NP_001338002.1:n.-377-16098A>G | |
| NM_001351074.2:c.16+25170A>G | NP_001338003.1:n.16+25170A>G | |
| NM_001351075.2:c.16+25170A>G | NP_001338004.1:n.16+25170A>G | |
| NM_001351076.2:c.16+25170A>G | NP_001338005.1:n.16+25170A>G | |
| NM_001351077.2:c.16+25170A>G | NP_001338006.1:n.16+25170A>G | |
| NM_001351078.2:c.16+25170A>G | NP_001338007.1:n.16+25170A>G | |
| NM_001351079.2:c.16+25170A>G | NP_001338008.1:n.16+25170A>G | |
| NM_001351080.2:c.16+25170A>G | NP_001338009.1:n.16+25170A>G | |
| NM_032550.4:c.16+25170A>G | NP_115939.1:n.16+25170A>G |