Linked Data
dbSNP Id:
rs760481039
ExAC:
2:238672529 C / A
gnomAD v2:
2-238672529-C-A
gnomAD v4:
2-237763886-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237763886C>A , CM000664.2:g.237763886C>A | GRCh38 |
| NC_000002.11:g.238672529C>A , CM000664.1:g.238672529C>A | GRCh37 |
| NC_000002.10:g.238337268C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3681C>A | ||
| ENST00000698098.1:c.955+3681C>A | ENSP00000513562.1:n.955+3681C>A | |
| ENST00000308482.14:c.1459+3681C>A MANE Select | ENSP00000310109.9:n.1459+3681C>A | |
| ENST00000244815.9:c.2101C>A | ENSP00000244815.5:p.Arg701Ser | |
| ENST00000289175.10:c.2005C>A | ENSP00000289175.6:p.Arg669Ser | |
| ENST00000308482.13:c.1459+3681C>A | ENSP00000310109.9:n.1459+3681C>A | |
| ENST00000392000.4:c.2173C>A | ENSP00000375857.4:p.Arg725Ser | |
| ENST00000483443.1:n.235+3681C>A | ||
| NM_001137550.1:c.1459+3681C>A | NP_001131022.1:n.1459+3681C>A | |
| NM_001137551.1:c.721+3681C>A | NP_001131023.1:n.721+3681C>A | |
| NM_001137552.1:c.2173C>A | NP_001131024.1:p.Arg725Ser | |
| NM_001137553.1:c.2005C>A | NP_001131025.1:p.Arg669Ser | |
| NM_004735.3:c.2101C>A | NP_004726.2:p.Arg701Ser | |
| XM_005246112.3:c.2806C>A | XP_005246169.1:p.Arg936Ser | |
| XM_005246115.3:c.2761C>A | XP_005246172.1:p.Arg921Ser | |
| XM_005246116.3:c.2743C>A | XP_005246173.1:p.Arg915Ser | |
| XM_005246118.3:c.2698C>A | XP_005246175.1:p.Arg900Ser | |
| XM_005246119.3:c.2695C>A | XP_005246176.1:p.Arg899Ser | |
| XM_005246120.3:c.2659C>A | XP_005246177.1:p.Arg887Ser | |
| XM_005246121.3:c.2644C>A | XP_005246178.1:p.Arg882Ser | |
| XM_005246122.3:c.2632C>A | XP_005246179.1:p.Arg878Ser | |
| XM_005246124.1:c.2614C>A | XP_005246181.1:p.Arg872Ser | |
| XM_005246125.3:c.2593C>A | XP_005246182.1:p.Arg865Ser | |
| XM_005246126.3:c.2554C>A | XP_005246183.1:p.Arg852Ser | |
| XM_005246128.1:c.2521C>A | XP_005246185.1:p.Arg841Ser | |
| XM_005246129.3:c.2482C>A | XP_005246186.1:p.Arg828Ser | |
| XM_005246130.3:c.2455C>A | XP_005246187.1:p.Arg819Ser | |
| XM_005246131.3:c.2368C>A | XP_005246188.1:p.Arg790Ser | |
| XM_005246132.3:c.2293C>A | XP_005246189.1:p.Arg765Ser | |
| XM_005246133.1:c.2263C>A | XP_005246190.1:p.Arg755Ser | |
| XM_005246134.1:c.2221C>A | XP_005246191.1:p.Arg741Ser | |
| XM_005246135.1:c.2191C>A | XP_005246192.1:p.Arg731Ser | |
| XM_005246136.1:c.2035C>A | XP_005246193.1:p.Arg679Ser | |
| XM_005246141.3:c.823+3681C>A | XP_005246198.1:n.823+3681C>A | |
| XM_005246142.1:c.751+3681C>A | XP_005246199.1:n.751+3681C>A | |
| XM_006712842.2:c.2704C>A | XP_006712905.1:p.Arg902Ser | |
| XM_006712843.2:c.2599C>A | XP_006712906.1:p.Arg867Ser | |
| XM_006712844.1:c.2533C>A | XP_006712907.1:p.Arg845Ser | |
| XM_006712845.2:c.2515C>A | XP_006712908.1:p.Arg839Ser | |
| XM_006712846.1:c.2419C>A | XP_006712909.1:p.Arg807Ser | |
| XM_006712847.1:c.2359C>A | XP_006712910.1:p.Arg787Ser | |
| XM_006712848.1:c.2287C>A | XP_006712911.1:p.Arg763Ser | |
| XM_011512152.1:c.2839C>A | XP_011510454.1:p.Arg947Ser | |
| XM_011512153.1:c.2821C>A | XP_011510455.1:p.Arg941Ser | |
| XM_011512154.1:c.2809C>A | XP_011510456.1:p.Arg937Ser | |
| XM_011512155.1:c.2800C>A | XP_011510457.1:p.Arg934Ser | |
| XM_011512156.1:c.2767C>A | XP_011510458.1:p.Arg923Ser | |
| XM_011512157.1:c.2653C>A | XP_011510459.1:p.Arg885Ser | |
| XM_011512158.1:c.2581C>A | XP_011510460.1:p.Arg861Ser | |
| XM_011512159.1:c.2389C>A | XP_011510461.1:p.Arg797Ser | |
| XM_011512160.1:c.1555+3681C>A | XP_011510462.1:n.1555+3681C>A | |
| XM_011512161.1:c.1555+3681C>A | XP_011510463.1:n.1555+3681C>A | |
| XM_011512162.1:c.1369+3681C>A | XP_011510464.1:n.1369+3681C>A | |
| XM_011512163.1:c.1297+3681C>A | XP_011510465.1:n.1297+3681C>A | |
| XM_011512164.1:c.751+3681C>A | XP_011510466.1:n.751+3681C>A | |
| XM_011512165.1:c.721+3681C>A | XP_011510467.1:n.721+3681C>A | |
| XM_011512166.1:c.1516+3681C>A | XP_011510468.1:n.1516+3681C>A | |
| XR_923063.1:n.1605+3681C>A | ||
| XM_005246141.4:c.823+3681C>A | XP_005246198.1:n.823+3681C>A | |
| XM_005246142.2:c.751+3681C>A | XP_005246199.1:n.751+3681C>A | |
| XM_017005253.2:c.1522+3681C>A | XP_016860742.1:n.1522+3681C>A | |
| XM_017005254.2:c.1522+3681C>A | XP_016860743.1:n.1522+3681C>A | |
| XM_017005255.2:c.1450+3681C>A | XP_016860744.1:n.1450+3681C>A | |
| XM_017005256.2:c.1336+3681C>A | XP_016860745.1:n.1336+3681C>A | |
| XM_017005257.2:c.1387+3681C>A | XP_016860746.1:n.1387+3681C>A | |
| XM_017005258.2:c.1336+3681C>A | XP_016860747.1:n.1336+3681C>A | |
| XM_017005260.2:c.1162+3681C>A | XP_016860749.1:n.1162+3681C>A | |
| XM_017005261.2:c.1099+3681C>A | XP_016860750.1:n.1099+3681C>A | |
| XM_017005262.2:c.1099+3681C>A | XP_016860751.1:n.1099+3681C>A | |
| XM_017005263.2:c.937+3681C>A | XP_016860752.1:n.937+3681C>A | |
| XR_001739039.2:n.2875C>A | ||
| XR_001739040.1:n.3040C>A | ||
| XR_001739041.2:n.2836C>A | ||
| XR_001739042.2:n.2812C>A | ||
| XR_001739043.1:n.2788C>A | ||
| XR_001739044.2:n.2803C>A | ||
| XR_001739045.2:n.2773C>A | ||
| XR_001739046.1:n.3120C>A | ||
| XR_001739047.2:n.2689C>A | ||
| XR_001739048.1:n.2878C>A | ||
| XR_001739049.2:n.2623C>A | ||
| XR_001739050.2:n.2584C>A | ||
| XR_001739051.2:n.2551C>A | ||
| XR_001739052.2:n.2524C>A | ||
| XR_001739053.1:n.2513C>A | ||
| XR_001739054.1:n.2435C>A | ||
| XR_001739055.2:n.2452C>A | ||
| XR_001739056.2:n.2437C>A | ||
| XR_001739057.1:n.2453C>A | ||
| XR_001739058.1:n.2632C>A | ||
| XR_001739059.2:n.2365C>A | ||
| XR_001739060.1:n.2339C>A | ||
| XR_001739061.1:n.2381C>A | ||
| XR_001739062.1:n.2558C>A | ||
| XR_001739063.1:n.2265C>A | ||
| XR_001739064.1:n.2526C>A | ||
| XR_001739065.1:n.2470C>A | ||
| XR_001739066.1:n.2267C>A | ||
| XR_001739067.1:n.2174C>A | ||
| XR_001739068.1:n.2195C>A | ||
| XR_001739069.1:n.2372C>A | ||
| XR_001739070.1:n.2236C>A | ||
| XR_001739071.1:n.2094C>A | ||
| XR_001739072.1:n.2340C>A | ||
| XR_001739073.2:n.1591+3681C>A | ||
| XR_002959364.1:n.2266C>A | ||
| NM_001137550.2:c.1459+3681C>A MANE Select | NP_001131022.1:n.1459+3681C>A | |
| NM_001137552.2:c.2173C>A | NP_001131024.1:p.Arg725Ser | |
| NM_001137553.2:c.2005C>A | NP_001131025.1:p.Arg669Ser | |
| NM_004735.4:c.2101C>A | NP_004726.2:p.Arg701Ser | |
| NM_001137551.2:c.721+3681C>A | NP_001131023.1:n.721+3681C>A |