gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148809304A>G , CM000669.2:g.148809304A>G | GRCh38 |
| NC_000007.13:g.148506396A>G , CM000669.1:g.148506396A>G | GRCh37 |
| NC_000007.12:g.148137329A>G | NCBI36 |
| NG_032043.1:g.80046T>C , LRG_531:g.80046T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.4010+6T>C | ||
| ENST00000682317.1:c.*1172+6T>C | ENSP00000508286.1:n.*1172+6T>C | |
| ENST00000683292.1:c.*1006+6T>C | ENSP00000507503.1:n.*1006+6T>C | |
| ENST00000683293.1:n.3829+6T>C | ||
| ENST00000683744.1:c.*1172+6T>C | ENSP00000506949.1:n.*1172+6T>C | |
| ENST00000684300.1:c.*1172+6T>C | ENSP00000508407.1:n.*1172+6T>C | |
| ENST00000684400.1:n.3949T>C | ||
| ENST00000684436.1:n.2426+6T>C | ||
| ENST00000684510.1:n.2488+6T>C | ||
| ENST00000320356.7:c.2110+6T>C MANE Select | ENSP00000320147.2:n.2110+6T>C | |
| ENST00000320356.6:c.2110+6T>C | ENSP00000320147.2:n.2110+6T>C | |
| ENST00000350995.6:c.1978+6T>C | ENSP00000223193.2:n.1978+6T>C | |
| ENST00000460911.5:c.2095+6T>C | ENSP00000419711.1:n.2095+6T>C | |
| ENST00000476773.5:c.1942+6T>C | ENSP00000419050.1:n.1942+6T>C | |
| ENST00000478654.5:c.1942+6T>C | ENSP00000417062.1:n.1942+6T>C | |
| ENST00000483967.5:c.2068+6T>C | ENSP00000419856.1:n.2068+6T>C | |
| ENST00000492143.5:c.*2100+6T>C | ENSP00000417377.1:n.*2100+6T>C | |
| NM_001203247.1:c.2095+6T>C | NP_001190176.1:n.2095+6T>C | |
| NM_001203248.1:c.2068+6T>C | NP_001190177.1:n.2068+6T>C | |
| NM_001203249.1:c.1942+6T>C | NP_001190178.1:n.1942+6T>C | |
| NM_004456.4:c.2110+6T>C , LRG_531t1:c.2110+6T>C | NP_004447.2:n.2110+6T>C | |
| NM_152998.2:c.1978+6T>C | NP_694543.1:n.1978+6T>C | |
| XM_005249962.3:c.2119+6T>C | XP_005250019.1:n.2119+6T>C | |
| XM_005249963.3:c.2092+6T>C | XP_005250020.1:n.2092+6T>C | |
| XM_005249964.3:c.1966+6T>C | XP_005250021.1:n.1966+6T>C | |
| XM_011515883.1:c.2134+6T>C | XP_011514185.1:n.2134+6T>C | |
| XM_011515884.1:c.2110+6T>C | XP_011514186.1:n.2110+6T>C | |
| XM_011515885.1:c.2107+6T>C | XP_011514187.1:n.2107+6T>C | |
| XM_011515886.1:c.2086+6T>C | XP_011514188.1:n.2086+6T>C | |
| XM_011515887.1:c.2083+6T>C | XP_011514189.1:n.2083+6T>C | |
| XM_011515888.1:c.2083+6T>C | XP_011514190.1:n.2083+6T>C | |
| XM_011515889.1:c.2044+6T>C | XP_011514191.1:n.2044+6T>C | |
| XM_011515890.1:c.2017+6T>C | XP_011514192.1:n.2017+6T>C | |
| XM_011515891.1:c.2011+6T>C | XP_011514193.1:n.2011+6T>C | |
| XM_011515892.1:c.2008+6T>C | XP_011514194.1:n.2008+6T>C | |
| XM_011515893.1:c.2002+6T>C | XP_011514195.1:n.2002+6T>C | |
| XM_011515894.1:c.1993+6T>C | XP_011514196.1:n.1993+6T>C | |
| XM_011515895.1:c.1990+6T>C | XP_011514197.1:n.1990+6T>C | |
| XM_011515896.1:c.1876+6T>C | XP_011514198.1:n.1876+6T>C | |
| XM_011515897.1:c.1783+6T>C | XP_011514199.1:n.1783+6T>C | |
| XM_011515898.1:c.1783+6T>C | XP_011514200.1:n.1783+6T>C | |
| XR_928101.1:n.515+4219A>G | ||
| XR_928102.1:n.722+4219A>G | ||
| XM_005249962.4:c.2119+6T>C | XP_005250019.1:n.2119+6T>C | |
| XM_005249963.4:c.2092+6T>C | XP_005250020.1:n.2092+6T>C | |
| XM_005249964.4:c.1966+6T>C | XP_005250021.1:n.1966+6T>C | |
| XM_011515883.2:c.2134+6T>C | XP_011514185.1:n.2134+6T>C | |
| XM_011515884.2:c.2110+6T>C | XP_011514186.1:n.2110+6T>C | |
| XM_011515885.2:c.2107+6T>C | XP_011514187.1:n.2107+6T>C | |
| XM_011515886.2:c.2086+6T>C | XP_011514188.1:n.2086+6T>C | |
| XM_011515887.3:c.2083+6T>C | XP_011514189.1:n.2083+6T>C | |
| XM_011515888.2:c.2083+6T>C | XP_011514190.1:n.2083+6T>C | |
| XM_011515889.2:c.2044+6T>C | XP_011514191.1:n.2044+6T>C | |
| XM_011515890.2:c.2017+6T>C | XP_011514192.1:n.2017+6T>C | |
| XM_011515891.3:c.2011+6T>C | XP_011514193.1:n.2011+6T>C | |
| XM_011515892.2:c.2008+6T>C | XP_011514194.1:n.2008+6T>C | |
| XM_011515893.2:c.2002+6T>C | XP_011514195.1:n.2002+6T>C | |
| XM_011515894.2:c.1993+6T>C | XP_011514196.1:n.1993+6T>C | |
| XM_011515895.2:c.1990+6T>C | XP_011514197.1:n.1990+6T>C | |
| XM_011515896.2:c.1876+6T>C | XP_011514198.1:n.1876+6T>C | |
| XM_011515897.2:c.1783+6T>C | XP_011514199.1:n.1783+6T>C | |
| XM_011515898.2:c.1783+6T>C | XP_011514200.1:n.1783+6T>C | |
| XM_017011817.2:c.2134+6T>C | XP_016867306.1:n.2134+6T>C | |
| XM_017011818.1:c.2071+6T>C | XP_016867307.1:n.2071+6T>C | |
| XM_017011819.1:c.1993+6T>C | XP_016867308.1:n.1993+6T>C | |
| XM_017011820.2:c.1966+6T>C | XP_016867309.1:n.1966+6T>C | |
| XM_017011821.1:c.1768+6T>C | XP_016867310.1:n.1768+6T>C | |
| XM_024446680.1:c.1996+6T>C | XP_024302448.1:n.1996+6T>C | |
| XR_001744581.1:n.4484+6T>C | ||
| XR_002956413.1:n.5140+6T>C | ||
| XR_002956414.1:n.5600+6T>C | ||
| NM_001203247.2:c.2095+6T>C | NP_001190176.1:n.2095+6T>C | |
| NM_001203248.2:c.2068+6T>C | NP_001190177.1:n.2068+6T>C | |
| NM_001203249.2:c.1942+6T>C | NP_001190178.1:n.1942+6T>C | |
| NM_004456.5:c.2110+6T>C MANE Select | NP_004447.2:n.2110+6T>C | |
| NM_152998.3:c.1978+6T>C | NP_694543.1:n.1978+6T>C |