gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55322162 (SAS)
Genomes Max Group AF
0.55322162 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45209675C>T , CM000683.2:g.45209675C>T | GRCh38 |
| NC_000021.8:g.46629590C>T , CM000683.1:g.46629590C>T | GRCh37 |
| NC_000021.7:g.45454018C>T | NCBI36 |
| NG_052015.1:g.140098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449478.2:c.1867+4939C>T | ENSP00000387480.2:n.1867+4939C>T | |
| ENST00000705392.1:c.1894+4939C>T | ENSP00000516122.1:n.1894+4939C>T | |
| ENST00000705393.1:c.2014+4939C>T | ENSP00000516123.1:n.2014+4939C>T | |
| ENST00000348831.9:c.1747+4939C>T MANE Select | ENSP00000015877.6:n.1747+4939C>T | |
| ENST00000348831.8:c.1747+4939C>T | ENSP00000015877.6:n.1747+4939C>T | |
| ENST00000360697.4:c.1867+4939C>T | ENSP00000353920.3:n.1867+4939C>T | |
| ENST00000389861.7:n.2278+4939C>T | ||
| ENST00000389863.8:c.1867+4939C>T | ENSP00000374513.4:n.1867+4939C>T | |
| ENST00000437626.5:c.1867+4939C>T | ENSP00000414600.2:n.1867+4939C>T | |
| ENST00000492414.5:c.1747+4939C>T | ENSP00000436367.1:n.1747+4939C>T | |
| ENST00000496664.5:c.1867+4939C>T | ENSP00000435381.1:n.1867+4939C>T | |
| ENST00000629643.2:c.1831+4939C>T | ENSP00000486475.1:n.1831+4939C>T | |
| NM_001112.3:c.1747+4939C>T | NP_001103.1:n.1747+4939C>T | |
| NM_001160230.1:c.1747+4939C>T | NP_001153702.1:n.1747+4939C>T | |
| NM_015833.3:c.1867+4939C>T | NP_056648.1:n.1867+4939C>T | |
| NM_015834.3:c.1867+4939C>T | NP_056649.1:n.1867+4939C>T | |
| NR_027672.1:n.1247+4939C>T | ||
| NR_027673.1:n.2300+4939C>T | ||
| NR_027674.1:n.2182+4939C>T | ||
| NR_073200.1:n.2302+4939C>T | ||
| XM_006723954.2:c.1951+4939C>T | XP_006724017.1:n.1951+4939C>T | |
| XM_006723956.2:c.1867+4939C>T | XP_006724019.1:n.1867+4939C>T | |
| XM_011529424.1:c.1867+4939C>T | XP_011527726.1:n.1867+4939C>T | |
| XM_011529425.1:c.1960+4939C>T | XP_011527727.1:n.1960+4939C>T | |
| XM_011529426.1:c.1867+4939C>T | XP_011527728.1:n.1867+4939C>T | |
| XM_011529427.1:c.1747+4939C>T | XP_011527729.1:n.1747+4939C>T | |
| XM_011529428.1:c.1747+4939C>T | XP_011527730.1:n.1747+4939C>T | |
| XM_011529429.1:c.*66+2287C>T | XP_011527731.1:n.*66+2287C>T | |
| XM_011529430.1:c.*67+3923C>T | XP_011527732.1:n.*67+3923C>T | |
| XM_011529432.1:c.799+4939C>T | XP_011527734.1:n.799+4939C>T | |
| NM_001346687.1:c.2014+4939C>T | NP_001333616.1:n.2014+4939C>T | |
| NM_001346688.1:c.1747+4939C>T | NP_001333617.1:n.1747+4939C>T | |
| NR_144483.1:n.2182+4939C>T | ||
| XM_011529425.2:c.1960+4939C>T | XP_011527727.1:n.1960+4939C>T | |
| XM_017028242.2:c.2014+4939C>T | XP_016883731.1:n.2014+4939C>T | |
| XM_017028243.1:c.1951+4939C>T | XP_016883732.1:n.1951+4939C>T | |
| XM_017028244.2:c.2014+4939C>T | XP_016883733.1:n.2014+4939C>T | |
| XM_017028245.2:c.1894+4939C>T | XP_016883734.1:n.1894+4939C>T | |
| XM_017028246.1:c.1951+4939C>T | XP_016883735.1:n.1951+4939C>T | |
| XM_017028247.1:c.1867+4939C>T | XP_016883736.1:n.1867+4939C>T | |
| XM_017028248.1:c.1867+4939C>T | XP_016883737.1:n.1867+4939C>T | |
| XM_017028249.1:c.1867+4939C>T | XP_016883738.1:n.1867+4939C>T | |
| XM_017028250.1:c.1867+4939C>T | XP_016883739.1:n.1867+4939C>T | |
| XM_017028251.1:c.1867+4939C>T | XP_016883740.1:n.1867+4939C>T | |
| XM_017028253.2:c.1894+4939C>T | XP_016883742.1:n.1894+4939C>T | |
| XM_017028254.1:c.1867+4939C>T | XP_016883743.1:n.1867+4939C>T | |
| XM_017028255.1:c.1747+4939C>T | XP_016883744.1:n.1747+4939C>T | |
| XM_024452043.1:c.1894+4939C>T | XP_024307811.1:n.1894+4939C>T | |
| XR_001754786.2:n.3976+4939C>T | ||
| XR_001754787.2:n.3976+4939C>T | ||
| XR_001754791.2:n.4071+2287C>T | ||
| XR_001754792.2:n.4072+3923C>T | ||
| XR_001754793.2:n.4046+4939C>T | ||
| NM_001112.4:c.1747+4939C>T MANE Select | NP_001103.1:n.1747+4939C>T | |
| NM_001160230.2:c.1747+4939C>T | NP_001153702.1:n.1747+4939C>T | |
| NM_001346687.2:c.2014+4939C>T | NP_001333616.1:n.2014+4939C>T | |
| NM_015833.4:c.1867+4939C>T | NP_056648.1:n.1867+4939C>T | |
| NM_015834.4:c.1867+4939C>T | NP_056649.1:n.1867+4939C>T | |
| NR_027672.2:n.1245+4939C>T | ||
| NR_027674.2:n.2180+4939C>T | ||
| NR_073200.2:n.2300+4939C>T | ||
| NR_144483.2:n.2180+4939C>T | ||
| NM_001346688.2:c.1747+4939C>T | NP_001333617.1:n.1747+4939C>T |