gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31136668 (EAS)
Genomes Max Group AF
0.31136668 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.678837T>C , CM000671.2:g.678837T>C | GRCh38 |
| NC_000009.11:g.678837T>C , CM000671.1:g.678837T>C | GRCh37 |
| NC_000009.10:g.668837T>C | NCBI36 |
| NG_016331.2:g.213544T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382289.7:c.37+1828T>C | ENSP00000371726.3:n.37+1828T>C | |
| ENST00000619269.5:c.37+1828T>C | ENSP00000477725.2:n.37+1828T>C | |
| ENST00000685947.1:c.37+1828T>C | ENSP00000508833.1:n.37+1828T>C | |
| ENST00000689779.1:c.37+1828T>C | ENSP00000508451.1:n.37+1828T>C | |
| ENST00000689926.1:c.37+1828T>C | ENSP00000510088.1:n.37+1828T>C | |
| ENST00000691319.1:c.37+1828T>C | ENSP00000509034.1:n.37+1828T>C | |
| ENST00000692130.1:n.173+1828T>C | ||
| ENST00000382297.7:c.37+1828T>C MANE Select | ENSP00000371734.2:n.37+1828T>C | |
| ENST00000674102.1:c.37+1828T>C | ENSP00000501167.1:n.37+1828T>C | |
| ENST00000354485.5:n.172+1828T>C | ||
| ENST00000382297.6:c.37+1828T>C | ENSP00000371734.2:n.37+1828T>C | |
| ENST00000382303.5:c.37+1828T>C | ENSP00000371740.1:n.37+1828T>C | |
| ENST00000489369.5:n.173+1828T>C | ||
| ENST00000619269.4:c.37+1828T>C | ENSP00000477725.1:n.37+1828T>C | |
| NM_001256876.1:c.37+1828T>C | NP_001243805.1:n.37+1828T>C | |
| NM_001256877.1:c.37+1828T>C | NP_001243806.1:n.37+1828T>C | |
| NM_015158.3:c.37+1828T>C | NP_055973.2:n.37+1828T>C | |
| XM_005251411.2:c.37+1828T>C | XP_005251468.1:n.37+1828T>C | |
| XM_006716743.2:c.37+1828T>C | XP_006716806.1:n.37+1828T>C | |
| XM_011517817.1:c.37+1828T>C | XP_011516119.1:n.37+1828T>C | |
| XM_011517818.1:c.37+1828T>C | XP_011516120.1:n.37+1828T>C | |
| XM_011517819.1:c.37+1828T>C | XP_011516121.1:n.37+1828T>C | |
| XM_011517820.1:c.37+1828T>C | XP_011516122.1:n.37+1828T>C | |
| XM_011517821.1:c.37+1828T>C | XP_011516123.1:n.37+1828T>C | |
| XM_011517822.1:c.37+1828T>C | XP_011516124.1:n.37+1828T>C | |
| XM_011517823.1:c.37+1828T>C | XP_011516125.1:n.37+1828T>C | |
| XM_011517824.1:c.37+1828T>C | XP_011516126.1:n.37+1828T>C | |
| XM_011517826.1:c.37+1828T>C | XP_011516128.1:n.37+1828T>C | |
| NM_001256876.2:c.37+1828T>C | NP_001243805.1:n.37+1828T>C | |
| NM_001256877.2:c.37+1828T>C | NP_001243806.1:n.37+1828T>C | |
| NM_001354331.1:c.37+1828T>C | NP_001341260.1:n.37+1828T>C | |
| NM_001354332.1:c.37+1828T>C | NP_001341261.1:n.37+1828T>C | |
| NM_001354333.1:c.-438+1795T>C | NP_001341262.1:n.-438+1795T>C | |
| NM_001354334.1:c.37+1828T>C | NP_001341263.1:n.37+1828T>C | |
| NM_015158.4:c.37+1828T>C | NP_055973.2:n.37+1828T>C | |
| XM_017014517.2:c.37+1828T>C | XP_016870006.1:n.37+1828T>C | |
| XM_017014522.2:c.37+1828T>C | XP_016870011.1:n.37+1828T>C | |
| XM_017014525.2:c.37+1828T>C | XP_016870014.1:n.37+1828T>C | |
| XM_024447460.1:c.37+1828T>C | XP_024303228.1:n.37+1828T>C | |
| XM_024447461.1:c.37+1828T>C | XP_024303229.1:n.37+1828T>C | |
| XM_024447462.1:c.37+1828T>C | XP_024303230.1:n.37+1828T>C | |
| XM_024447463.1:c.37+1828T>C | XP_024303231.1:n.37+1828T>C | |
| XM_024447464.1:c.37+1828T>C | XP_024303232.1:n.37+1828T>C | |
| XM_024447465.1:c.37+1828T>C | XP_024303233.1:n.37+1828T>C | |
| XM_024447466.1:c.37+1828T>C | XP_024303234.1:n.37+1828T>C | |
| XM_024447467.1:c.37+1828T>C | XP_024303235.1:n.37+1828T>C | |
| XM_024447468.1:c.37+1828T>C | XP_024303236.1:n.37+1828T>C | |
| XM_024447469.1:c.37+1828T>C | XP_024303237.1:n.37+1828T>C | |
| XR_002956771.1:n.869+1828T>C | ||
| NM_015158.5:c.37+1828T>C MANE Select | NP_055973.2:n.37+1828T>C | |
| NM_001256876.3:c.37+1828T>C | NP_001243805.1:n.37+1828T>C | |
| NM_001256877.3:c.37+1828T>C | NP_001243806.1:n.37+1828T>C | |
| NM_001354331.2:c.37+1828T>C | NP_001341260.1:n.37+1828T>C | |
| NM_001354332.2:c.37+1828T>C | NP_001341261.1:n.37+1828T>C | |
| NM_001354333.2:c.-438+1795T>C | NP_001341262.1:n.-438+1795T>C | |
| NM_001354334.2:c.37+1828T>C | NP_001341263.1:n.37+1828T>C |