Linked Data
ClinVar Variation Id:
425445
dbSNP Id:
rs1064797347
gnomAD v2:
8-68049687-C-A
gnomAD v3:
8-67137452-C-A
gnomAD v4:
8-67137452-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67137452C>A , CM000670.2:g.67137452C>A | GRCh38 |
| NC_000008.10:g.68049687C>A , CM000670.1:g.68049687C>A | GRCh37 |
| NC_000008.9:g.68212241C>A | NCBI36 |
| NG_034100.1:g.78085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.1894-4C>A | ENSP00000262210.6:n.1894-4C>A | |
| ENST00000674993.1:c.1918-4C>A | ENSP00000502454.1:n.1918-4C>A | |
| ENST00000675306.2:c.1705-4C>A | ENSP00000502421.1:n.1705-4C>A | |
| ENST00000675820.1:c.*1619-4C>A | ENSP00000501959.1:n.*1619-4C>A | |
| ENST00000675869.1:c.1786-4C>A | ENSP00000502747.1:n.1786-4C>A | |
| ENST00000675955.1:c.1747-4C>A | ENSP00000501676.1:n.1747-4C>A | |
| ENST00000676113.1:c.1786-4C>A | ENSP00000501645.1:n.1786-4C>A | |
| ENST00000676317.1:c.1813-4C>A | ENSP00000502047.1:n.1813-4C>A | |
| ENST00000676471.1:c.1714-4C>A | ENSP00000503711.1:n.1714-4C>A | |
| ENST00000676534.1:n.4754-4C>A | ||
| ENST00000676567.1:c.*605-4C>A | ENSP00000503427.1:n.*605-4C>A | |
| ENST00000676573.1:c.1282-4C>A | ENSP00000504532.1:n.1282-4C>A | |
| ENST00000676605.1:c.1936-4C>A | ENSP00000503605.1:n.1936-4C>A | |
| ENST00000676656.1:n.121-4C>A | ||
| ENST00000676695.1:c.1654-4C>A | ENSP00000503292.1:n.1654-4C>A | |
| ENST00000676697.1:n.2589-4C>A | ||
| ENST00000676804.1:c.131-4C>A | ||
| ENST00000676847.1:c.1807-4C>A | ENSP00000503336.1:n.1807-4C>A | |
| ENST00000676858.1:c.1699-4C>A | ENSP00000502925.1:n.1699-4C>A | |
| ENST00000676882.1:c.1714-4C>A | ENSP00000504342.1:n.1714-4C>A | |
| ENST00000677009.1:c.1813-4C>A | ENSP00000503297.1:n.1813-4C>A | |
| ENST00000677052.1:n.1326-4C>A | ||
| ENST00000677070.1:c.1495-4C>A | ENSP00000503014.1:n.1495-4C>A | |
| ENST00000677256.1:c.*1547-4C>A | ENSP00000504102.1:n.*1547-4C>A | |
| ENST00000677430.1:c.1747-4C>A | ENSP00000504177.1:n.1747-4C>A | |
| ENST00000677455.1:n.1854-4C>A | ||
| ENST00000677473.1:c.1755+5372C>A | ENSP00000503534.1:n.1755+5372C>A | |
| ENST00000677592.1:c.1795-4C>A | ENSP00000504516.1:n.1795-4C>A | |
| ENST00000677619.1:c.1174-4C>A | ENSP00000504522.1:n.1174-4C>A | |
| ENST00000677836.1:c.1418-4C>A | ENSP00000504345.1:n.1418-4C>A | |
| ENST00000677845.1:c.*199-4C>A | ENSP00000503524.1:n.*199-4C>A | |
| ENST00000677855.1:c.1402-4C>A | ENSP00000504757.1:n.1402-4C>A | |
| ENST00000678017.1:c.832-4C>A | ENSP00000504394.1:n.832-4C>A | |
| ENST00000678138.1:n.2144-4C>A | ||
| ENST00000678156.1:n.1468-4C>A | ||
| ENST00000678216.1:n.1420-4C>A | ||
| ENST00000678318.1:c.1363-4C>A | ENSP00000503690.1:n.1363-4C>A | |
| ENST00000678345.1:c.683-4C>A | ENSP00000503668.1:n.683-4C>A | |
| ENST00000678362.1:c.*605-4C>A | ENSP00000504317.1:n.*605-4C>A | |
| ENST00000678542.1:c.1936-4C>A | ENSP00000503878.1:n.1936-4C>A | |
| ENST00000678553.1:c.1756-4C>A | ENSP00000503747.1:n.1756-4C>A | |
| ENST00000678616.1:c.1828-4C>A MANE Select | ENSP00000504733.1:n.1828-4C>A | |
| ENST00000678635.1:n.323-4C>A | ||
| ENST00000678645.1:c.1705-4C>A | ENSP00000504031.1:n.1705-4C>A | |
| ENST00000678728.1:c.*605-4C>A | ENSP00000504830.1:n.*605-4C>A | |
| ENST00000678747.1:c.1255-4C>A | ENSP00000503390.1:n.1255-4C>A | |
| ENST00000678807.1:n.1010+5372C>A | ||
| ENST00000679042.1:n.2653-4C>A | ||
| ENST00000679112.1:c.*1727-4C>A | ENSP00000503739.1:n.*1727-4C>A | |
| ENST00000679226.1:c.1705-4C>A | ENSP00000503601.1:n.1705-4C>A | |
| ENST00000679274.1:n.752-4C>A | ||
| ENST00000262210.9:c.1813-4C>A | ENSP00000262210.5:n.1813-4C>A | |
| ENST00000519163.6:c.*2079-4C>A | ENSP00000428694.1:n.*2079-4C>A | |
| ENST00000519668.1:c.931-4C>A | ENSP00000430092.1:n.931-4C>A | |
| NM_001291339.1:c.931-4C>A | NP_001278268.1:n.931-4C>A | |
| NM_024790.6:c.1813-4C>A | NP_079066.5:n.1813-4C>A | |
| XM_005251305.3:c.2056-4C>A | XP_005251362.2:n.2056-4C>A | |
| XM_006716474.2:c.2056-4C>A | XP_006716537.2:n.2056-4C>A | |
| XM_006716477.2:c.1525-4C>A | XP_006716540.2:n.1525-4C>A | |
| XM_011517598.1:c.2098-4C>A | XP_011515900.1:n.2098-4C>A | |
| XM_011517599.1:c.2074-4C>A | XP_011515901.1:n.2074-4C>A | |
| XM_011517600.1:c.2032-4C>A | XP_011515902.1:n.2032-4C>A | |
| XM_011517601.1:c.1993-4C>A | XP_011515903.1:n.1993-4C>A | |
| XM_011517602.1:c.1951-4C>A | XP_011515904.1:n.1951-4C>A | |
| XM_011517603.1:c.1852-4C>A | XP_011515905.1:n.1852-4C>A | |
| XM_011517604.1:c.1852-4C>A | XP_011515906.1:n.1852-4C>A | |
| XM_011517605.1:c.1852-4C>A | XP_011515907.1:n.1852-4C>A | |
| XM_011517606.1:c.1828-4C>A | XP_011515908.1:n.1828-4C>A | |
| XM_011517607.1:c.1828-4C>A | XP_011515909.1:n.1828-4C>A | |
| XM_011517608.1:c.1747-4C>A | XP_011515910.1:n.1747-4C>A | |
| XM_011517609.1:c.973-4C>A | XP_011515911.1:n.973-4C>A | |
| XM_011517610.1:c.493-4C>A | XP_011515912.1:n.493-4C>A | |
| XM_011517611.1:c.133-4C>A | XP_011515913.1:n.133-4C>A | |
| NM_001363131.1:c.1747-4C>A | NP_001350060.1:n.1747-4C>A | |
| NM_001363132.1:c.1786-4C>A | NP_001350061.1:n.1786-4C>A | |
| NM_001363133.1:c.1705-4C>A | NP_001350062.1:n.1705-4C>A | |
| NM_001364869.1:c.1894-4C>A | NP_001351798.1:n.1894-4C>A | |
| NM_001364870.1:c.1714-4C>A | NP_001351799.1:n.1714-4C>A | |
| XM_005251305.4:c.2056-4C>A | XP_005251362.2:n.2056-4C>A | |
| XM_006716474.3:c.2056-4C>A | XP_006716537.2:n.2056-4C>A | |
| XM_006716477.3:c.1525-4C>A | XP_006716540.2:n.1525-4C>A | |
| XM_011517598.2:c.2098-4C>A | XP_011515900.1:n.2098-4C>A | |
| XM_011517599.2:c.2074-4C>A | XP_011515901.1:n.2074-4C>A | |
| XM_011517600.2:c.2032-4C>A | XP_011515902.1:n.2032-4C>A | |
| XM_011517601.2:c.1993-4C>A | XP_011515903.1:n.1993-4C>A | |
| XM_011517602.2:c.1951-4C>A | XP_011515904.1:n.1951-4C>A | |
| XM_011517603.2:c.1852-4C>A | XP_011515905.1:n.1852-4C>A | |
| XM_011517607.2:c.1828-4C>A | XP_011515909.1:n.1828-4C>A | |
| XM_011517609.2:c.973-4C>A | XP_011515911.1:n.973-4C>A | |
| XM_011517611.3:c.133-4C>A | XP_011515913.1:n.133-4C>A | |
| XM_017013847.2:c.1957-4C>A | XP_016869336.1:n.1957-4C>A | |
| XM_017013848.2:c.1933-4C>A | XP_016869337.1:n.1933-4C>A | |
| XM_017013849.2:c.1894-4C>A | XP_016869338.1:n.1894-4C>A | |
| XM_017013850.2:c.1852-4C>A | XP_016869339.1:n.1852-4C>A | |
| XM_017013851.2:c.1705-4C>A | XP_016869340.1:n.1705-4C>A | |
| XM_017013852.2:c.1852-4C>A | XP_016869341.1:n.1852-4C>A | |
| XM_017013854.2:c.1501-4C>A | XP_016869343.1:n.1501-4C>A | |
| XM_017013855.2:c.1420-4C>A | XP_016869344.1:n.1420-4C>A | |
| XM_017013856.2:c.1174-4C>A | XP_016869345.1:n.1174-4C>A | |
| XM_017013858.2:c.493-4C>A | XP_016869347.1:n.493-4C>A | |
| XM_024447278.1:c.1828-4C>A | XP_024303046.1:n.1828-4C>A | |
| XM_024447279.1:c.1747-4C>A | XP_024303047.1:n.1747-4C>A | |
| XM_024447281.1:c.1705-4C>A | XP_024303049.1:n.1705-4C>A | |
| XM_024447282.1:c.1255-4C>A | XP_024303050.1:n.1255-4C>A | |
| XM_024447283.1:c.931-4C>A | XP_024303051.1:n.931-4C>A | |
| XM_024447284.1:c.493-4C>A | XP_024303052.1:n.493-4C>A | |
| NM_001363131.2:c.1747-4C>A | NP_001350060.1:n.1747-4C>A | |
| NM_001363132.2:c.1786-4C>A | NP_001350061.1:n.1786-4C>A | |
| NM_001363133.2:c.1705-4C>A | NP_001350062.1:n.1705-4C>A | |
| NM_001291339.2:c.931-4C>A | NP_001278268.1:n.931-4C>A | |
| NM_001382391.1:c.1828-4C>A MANE Select | NP_001369320.1:n.1828-4C>A |