Linked Data
ClinVar Variation Id:
195504
dbSNP Id:
rs745738628
ExAC:
9:134398318 G / C
gnomAD v2:
9-134398318-G-C
gnomAD v4:
9-131522931-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522931G>C , CM000671.2:g.131522931G>C | GRCh38 |
| NC_000009.11:g.134398318G>C , CM000671.1:g.134398318G>C | GRCh37 |
| NC_000009.10:g.133388139G>C | NCBI36 |
| NG_008896.1:g.25030G>C | |
| NG_008896.2:g.25030G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1842-1G>C | ENSP00000343034.7:n.1842-1G>C | |
| ENST00000404875.7:n.2544-1G>C | ||
| ENST00000423007.6:c.2061-1G>C | ENSP00000404119.2:n.2061-1G>C | |
| ENST00000677295.2:c.*2348-1G>C | ENSP00000504346.2:n.*2348-1G>C | |
| ENST00000678264.2:c.*2187-1G>C | ENSP00000503157.2:n.*2187-1G>C | |
| ENST00000682070.1:n.2314-1G>C | ||
| ENST00000682813.1:n.2408-8G>C | ||
| ENST00000683392.1:n.4596-1G>C | ||
| ENST00000683712.1:n.2409-1G>C | ||
| ENST00000683900.1:n.3904-1G>C | ||
| ENST00000684062.1:n.2670-1G>C | ||
| ENST00000684579.1:n.3850-1G>C | ||
| ENST00000341012.12:c.1842-1G>C | ENSP00000343034.7:n.1842-1G>C | |
| ENST00000372220.5:c.873-1G>C | ENSP00000361294.5:n.873-1G>C | |
| ENST00000372228.9:c.2070-1G>C | ENSP00000361302.3:n.2070-1G>C | |
| ENST00000402686.8:c.2004-1G>C MANE Select | ENSP00000385797.4:n.2004-1G>C | |
| ENST00000676640.1:c.2004-1G>C | ENSP00000503281.1:n.2004-1G>C | |
| ENST00000676803.1:c.1065-1G>C | ENSP00000503093.1:n.1065-1G>C | |
| ENST00000676835.1:c.*1219-1G>C | ENSP00000502911.1:n.*1219-1G>C | |
| ENST00000677029.1:c.1548-1G>C | ENSP00000502936.1:n.1548-1G>C | |
| ENST00000677099.1:c.*1714-1G>C | ENSP00000504553.1:n.*1714-1G>C | |
| ENST00000677216.1:c.1653-1G>C | ENSP00000503772.1:n.1653-1G>C | |
| ENST00000677221.1:n.1029-1G>C | ||
| ENST00000677295.1:c.*1226-1G>C | ENSP00000504346.1:n.*1226-1G>C | |
| ENST00000677444.1:c.1949-1G>C | ||
| ENST00000677586.1:n.1371-1G>C | ||
| ENST00000677626.1:c.1653-1G>C | ENSP00000503552.1:n.1653-1G>C | |
| ENST00000677853.1:c.*1012-1G>C | ENSP00000503488.1:n.*1012-1G>C | |
| ENST00000678264.1:c.*1381-1G>C | ENSP00000503157.1:n.*1381-1G>C | |
| ENST00000678303.1:c.1914-1G>C | ENSP00000503696.1:n.1914-1G>C | |
| ENST00000678366.1:c.*2253-1G>C | ENSP00000504353.1:n.*2253-1G>C | |
| ENST00000678546.1:c.*1949-1G>C | ENSP00000503062.1:n.*1949-1G>C | |
| ENST00000678548.1:c.*2143-1G>C | ENSP00000503934.1:n.*2143-1G>C | |
| ENST00000678626.1:n.1840-1G>C | ||
| ENST00000678739.1:c.*2170-1G>C | ENSP00000503806.1:n.*2170-1G>C | |
| ENST00000678833.1:c.*1756-1G>C | ENSP00000503893.1:n.*1756-1G>C | |
| ENST00000679023.1:c.1842-1G>C | ENSP00000503718.1:n.1842-1G>C | |
| ENST00000679076.1:c.1623-1G>C | ||
| ENST00000679111.1:c.*760-1G>C | ENSP00000504257.1:n.*760-1G>C | |
| ENST00000679189.1:c.1653-1G>C | ENSP00000503356.1:n.1653-1G>C | |
| ENST00000341012.11:c.1842-1G>C | ENSP00000343034.7:n.1842-1G>C | |
| ENST00000372220.4:c.867-1G>C | ENSP00000361294.4:n.867-1G>C | |
| ENST00000372228.7:c.2070-1G>C | ENSP00000361302.3:n.2070-1G>C | |
| ENST00000402686.7:c.2004-1G>C | ENSP00000385797.3:n.2004-1G>C | |
| ENST00000404875.6:c.1653-1G>C | ENSP00000384531.2:n.1653-1G>C | |
| ENST00000423007.5:c.2004-1G>C | ENSP00000404119.1:n.2004-1G>C | |
| ENST00000485278.5:n.2554-1G>C | ||
| NM_001077365.1:c.2004-1G>C | NP_001070833.1:n.2004-1G>C | |
| NM_001077366.1:c.1842-1G>C | NP_001070834.1:n.1842-1G>C | |
| NM_001136113.1:c.2004-1G>C | NP_001129585.1:n.2004-1G>C | |
| NM_001136114.1:c.1653-1G>C | NP_001129586.1:n.1653-1G>C | |
| NM_007171.3:c.2070-1G>C | NP_009102.3:n.2070-1G>C | |
| XM_005272156.1:c.2070-1G>C | XP_005272213.1:n.2070-1G>C | |
| XM_005272158.1:c.1908-1G>C | XP_005272215.1:n.1908-1G>C | |
| XM_005272159.1:c.1719-1G>C | XP_005272216.1:n.1719-1G>C | |
| XM_005272162.1:c.873-1G>C | XP_005272219.1:n.873-1G>C | |
| XM_006716932.1:c.1719-1G>C | XP_006716995.1:n.1719-1G>C | |
| XM_011518140.1:c.1923-1G>C | XP_011516442.1:n.1923-1G>C | |
| XM_011518141.1:c.1857-1G>C | XP_011516443.1:n.1857-1G>C | |
| XM_011518142.1:c.1761-1G>C | XP_011516444.1:n.1761-1G>C | |
| XM_011518143.1:c.1755-1G>C | XP_011516445.1:n.1755-1G>C | |
| XM_011518145.1:c.1614-1G>C | XP_011516447.1:n.1614-1G>C | |
| XM_011518147.1:c.942-1G>C | XP_011516449.1:n.942-1G>C | |
| XR_929703.1:n.2246-1G>C | ||
| NM_001353193.1:c.2070-1G>C | NP_001340122.1:n.2070-1G>C | |
| NM_001353194.1:c.1842-1G>C | NP_001340123.1:n.1842-1G>C | |
| NM_001353195.1:c.1653-1G>C | NP_001340124.1:n.1653-1G>C | |
| NM_001353196.1:c.1914-1G>C | NP_001340125.1:n.1914-1G>C | |
| NM_001353197.1:c.1908-1G>C | NP_001340126.1:n.1908-1G>C | |
| NM_001353198.1:c.1908-1G>C | NP_001340127.1:n.1908-1G>C | |
| NM_001353199.1:c.1719-1G>C | NP_001340128.1:n.1719-1G>C | |
| NM_001353200.1:c.1548-1G>C | NP_001340129.1:n.1548-1G>C | |
| NR_148391.1:n.2054-1G>C | ||
| NR_148392.1:n.2272-1G>C | ||
| NR_148393.1:n.2193-1G>C | ||
| NR_148394.1:n.1947-1G>C | ||
| NR_148395.1:n.2345-1G>C | ||
| NR_148396.1:n.1979-1G>C | ||
| NR_148397.1:n.2104-1G>C | ||
| NR_148398.1:n.2059-1G>C | ||
| NR_148399.1:n.2585-1G>C | ||
| NR_148400.1:n.2184-1G>C | ||
| XM_005272162.3:c.873-1G>C | XP_005272219.1:n.873-1G>C | |
| XM_006716932.2:c.1719-1G>C | XP_006716995.1:n.1719-1G>C | |
| XM_011518140.2:c.1923-1G>C | XP_011516442.1:n.1923-1G>C | |
| XM_011518141.2:c.1857-1G>C | XP_011516443.1:n.1857-1G>C | |
| XM_011518142.2:c.1761-1G>C | XP_011516444.1:n.1761-1G>C | |
| XM_011518143.2:c.1755-1G>C | XP_011516445.1:n.1755-1G>C | |
| XM_011518145.2:c.1614-1G>C | XP_011516447.1:n.1614-1G>C | |
| XM_017014205.2:c.873-1G>C | XP_016869694.1:n.873-1G>C | |
| XM_024447380.1:c.873-1G>C | XP_024303148.1:n.873-1G>C | |
| XM_024447381.1:c.1179-1G>C | XP_024303149.1:n.1179-1G>C | |
| XM_024447382.1:c.873-1G>C | XP_024303150.1:n.873-1G>C | |
| XR_001746160.2:n.2174-1G>C | ||
| XR_001746162.2:n.2379-1G>C | ||
| XR_001746164.1:n.2096-1G>C | ||
| XR_001746166.2:n.2391-1G>C | ||
| NM_001077365.2:c.2004-1G>C MANE Select | NP_001070833.1:n.2004-1G>C | |
| NM_001077366.2:c.1842-1G>C | NP_001070834.1:n.1842-1G>C | |
| NM_001136113.2:c.2004-1G>C | NP_001129585.1:n.2004-1G>C | |
| NM_001136114.2:c.1653-1G>C | NP_001129586.1:n.1653-1G>C | |
| NM_001353193.2:c.2070-1G>C | NP_001340122.2:n.2070-1G>C | |
| NM_001353194.2:c.1842-1G>C | NP_001340123.1:n.1842-1G>C | |
| NM_001353195.2:c.1653-1G>C | NP_001340124.1:n.1653-1G>C | |
| NM_001353196.2:c.1914-1G>C | NP_001340125.1:n.1914-1G>C | |
| NM_001353197.2:c.1908-1G>C | NP_001340126.2:n.1908-1G>C | |
| NM_001353198.2:c.1908-1G>C | NP_001340127.2:n.1908-1G>C | |
| NM_001353199.2:c.1719-1G>C | NP_001340128.2:n.1719-1G>C | |
| NM_001353200.2:c.1548-1G>C | NP_001340129.1:n.1548-1G>C | |
| NM_001374689.1:c.1992-1G>C | NP_001361618.1:n.1992-1G>C | |
| NM_001374690.1:c.1785-1G>C | NP_001361619.1:n.1785-1G>C | |
| NM_001374691.1:c.1653-1G>C | NP_001361620.1:n.1653-1G>C | |
| NM_001374692.1:c.1653-1G>C | NP_001361621.1:n.1653-1G>C | |
| NM_001374693.1:c.1653-1G>C | NP_001361622.1:n.1653-1G>C | |
| NM_001374695.1:c.1614-1G>C | NP_001361624.1:n.1614-1G>C | |
| NM_007171.4:c.2070-1G>C | NP_009102.4:n.2070-1G>C | |
| NR_148391.2:n.2038-1G>C | ||
| NR_148392.2:n.2256-1G>C | ||
| NR_148393.2:n.2177-1G>C | ||
| NR_148394.2:n.1931-1G>C | ||
| NR_148395.2:n.2329-1G>C | ||
| NR_148396.2:n.1963-1G>C | ||
| NR_148397.2:n.2088-1G>C | ||
| NR_148398.2:n.2043-1G>C | ||
| NR_148399.2:n.2569-1G>C | ||
| NR_148400.2:n.2168-1G>C |