Linked Data
dbSNP Id:
rs11680012
ExAC:
2:238672425 G / C
gnomAD v2:
2-238672425-G-C
gnomAD v3:
2-237763782-G-C
gnomAD v4:
2-237763782-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237763782G>C , CM000664.2:g.237763782G>C | GRCh38 |
| NC_000002.11:g.238672425G>C , CM000664.1:g.238672425G>C | GRCh37 |
| NC_000002.10:g.238337164G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698097.1:c.1181+3577G>C | ||
| ENST00000698098.1:c.955+3577G>C | ENSP00000513562.1:n.955+3577G>C | |
| ENST00000308482.14:c.1459+3577G>C MANE Select | ENSP00000310109.9:n.1459+3577G>C | |
| ENST00000244815.9:c.1997G>C | ENSP00000244815.5:p.Arg666Thr | |
| ENST00000289175.10:c.1901G>C | ENSP00000289175.6:p.Arg634Thr | |
| ENST00000308482.13:c.1459+3577G>C | ENSP00000310109.9:n.1459+3577G>C | |
| ENST00000392000.4:c.2069G>C | ENSP00000375857.4:p.Arg690Thr | |
| ENST00000483443.1:n.235+3577G>C | ||
| NM_001137550.1:c.1459+3577G>C | NP_001131022.1:n.1459+3577G>C | |
| NM_001137551.1:c.721+3577G>C | NP_001131023.1:n.721+3577G>C | |
| NM_001137552.1:c.2069G>C | NP_001131024.1:p.Arg690Thr | |
| NM_001137553.1:c.1901G>C | NP_001131025.1:p.Arg634Thr | |
| NM_004735.3:c.1997G>C | NP_004726.2:p.Arg666Thr | |
| XM_005246112.3:c.2702G>C | XP_005246169.1:p.Arg901Thr | |
| XM_005246115.3:c.2657G>C | XP_005246172.1:p.Arg886Thr | |
| XM_005246116.3:c.2639G>C | XP_005246173.1:p.Arg880Thr | |
| XM_005246118.3:c.2594G>C | XP_005246175.1:p.Arg865Thr | |
| XM_005246119.3:c.2591G>C | XP_005246176.1:p.Arg864Thr | |
| XM_005246120.3:c.2555G>C | XP_005246177.1:p.Arg852Thr | |
| XM_005246121.3:c.2540G>C | XP_005246178.1:p.Arg847Thr | |
| XM_005246122.3:c.2528G>C | XP_005246179.1:p.Arg843Thr | |
| XM_005246124.1:c.2510G>C | XP_005246181.1:p.Arg837Thr | |
| XM_005246125.3:c.2489G>C | XP_005246182.1:p.Arg830Thr | |
| XM_005246126.3:c.2450G>C | XP_005246183.1:p.Arg817Thr | |
| XM_005246128.1:c.2417G>C | XP_005246185.1:p.Arg806Thr | |
| XM_005246129.3:c.2378G>C | XP_005246186.1:p.Arg793Thr | |
| XM_005246130.3:c.2351G>C | XP_005246187.1:p.Arg784Thr | |
| XM_005246131.3:c.2264G>C | XP_005246188.1:p.Arg755Thr | |
| XM_005246132.3:c.2189G>C | XP_005246189.1:p.Arg730Thr | |
| XM_005246133.1:c.2159G>C | XP_005246190.1:p.Arg720Thr | |
| XM_005246134.1:c.2117G>C | XP_005246191.1:p.Arg706Thr | |
| XM_005246135.1:c.2087G>C | XP_005246192.1:p.Arg696Thr | |
| XM_005246136.1:c.1931G>C | XP_005246193.1:p.Arg644Thr | |
| XM_005246141.3:c.823+3577G>C | XP_005246198.1:n.823+3577G>C | |
| XM_005246142.1:c.751+3577G>C | XP_005246199.1:n.751+3577G>C | |
| XM_006712842.2:c.2600G>C | XP_006712905.1:p.Arg867Thr | |
| XM_006712843.2:c.2495G>C | XP_006712906.1:p.Arg832Thr | |
| XM_006712844.1:c.2429G>C | XP_006712907.1:p.Arg810Thr | |
| XM_006712845.2:c.2411G>C | XP_006712908.1:p.Arg804Thr | |
| XM_006712846.1:c.2315G>C | XP_006712909.1:p.Arg772Thr | |
| XM_006712847.1:c.2255G>C | XP_006712910.1:p.Arg752Thr | |
| XM_006712848.1:c.2183G>C | XP_006712911.1:p.Arg728Thr | |
| XM_011512152.1:c.2735G>C | XP_011510454.1:p.Arg912Thr | |
| XM_011512153.1:c.2717G>C | XP_011510455.1:p.Arg906Thr | |
| XM_011512154.1:c.2705G>C | XP_011510456.1:p.Arg902Thr | |
| XM_011512155.1:c.2696G>C | XP_011510457.1:p.Arg899Thr | |
| XM_011512156.1:c.2663G>C | XP_011510458.1:p.Arg888Thr | |
| XM_011512157.1:c.2549G>C | XP_011510459.1:p.Arg850Thr | |
| XM_011512158.1:c.2477G>C | XP_011510460.1:p.Arg826Thr | |
| XM_011512159.1:c.2285G>C | XP_011510461.1:p.Arg762Thr | |
| XM_011512160.1:c.1555+3577G>C | XP_011510462.1:n.1555+3577G>C | |
| XM_011512161.1:c.1555+3577G>C | XP_011510463.1:n.1555+3577G>C | |
| XM_011512162.1:c.1369+3577G>C | XP_011510464.1:n.1369+3577G>C | |
| XM_011512163.1:c.1297+3577G>C | XP_011510465.1:n.1297+3577G>C | |
| XM_011512164.1:c.751+3577G>C | XP_011510466.1:n.751+3577G>C | |
| XM_011512165.1:c.721+3577G>C | XP_011510467.1:n.721+3577G>C | |
| XM_011512166.1:c.1516+3577G>C | XP_011510468.1:n.1516+3577G>C | |
| XR_923063.1:n.1605+3577G>C | ||
| XM_005246141.4:c.823+3577G>C | XP_005246198.1:n.823+3577G>C | |
| XM_005246142.2:c.751+3577G>C | XP_005246199.1:n.751+3577G>C | |
| XM_017005253.2:c.1522+3577G>C | XP_016860742.1:n.1522+3577G>C | |
| XM_017005254.2:c.1522+3577G>C | XP_016860743.1:n.1522+3577G>C | |
| XM_017005255.2:c.1450+3577G>C | XP_016860744.1:n.1450+3577G>C | |
| XM_017005256.2:c.1336+3577G>C | XP_016860745.1:n.1336+3577G>C | |
| XM_017005257.2:c.1387+3577G>C | XP_016860746.1:n.1387+3577G>C | |
| XM_017005258.2:c.1336+3577G>C | XP_016860747.1:n.1336+3577G>C | |
| XM_017005260.2:c.1162+3577G>C | XP_016860749.1:n.1162+3577G>C | |
| XM_017005261.2:c.1099+3577G>C | XP_016860750.1:n.1099+3577G>C | |
| XM_017005262.2:c.1099+3577G>C | XP_016860751.1:n.1099+3577G>C | |
| XM_017005263.2:c.937+3577G>C | XP_016860752.1:n.937+3577G>C | |
| XR_001739039.2:n.2771G>C | ||
| XR_001739040.1:n.2936G>C | ||
| XR_001739041.2:n.2732G>C | ||
| XR_001739042.2:n.2708G>C | ||
| XR_001739043.1:n.2684G>C | ||
| XR_001739044.2:n.2699G>C | ||
| XR_001739045.2:n.2669G>C | ||
| XR_001739046.1:n.3016G>C | ||
| XR_001739047.2:n.2585G>C | ||
| XR_001739048.1:n.2774G>C | ||
| XR_001739049.2:n.2519G>C | ||
| XR_001739050.2:n.2480G>C | ||
| XR_001739051.2:n.2447G>C | ||
| XR_001739052.2:n.2420G>C | ||
| XR_001739053.1:n.2409G>C | ||
| XR_001739054.1:n.2331G>C | ||
| XR_001739055.2:n.2348G>C | ||
| XR_001739056.2:n.2333G>C | ||
| XR_001739057.1:n.2349G>C | ||
| XR_001739058.1:n.2528G>C | ||
| XR_001739059.2:n.2261G>C | ||
| XR_001739060.1:n.2235G>C | ||
| XR_001739061.1:n.2277G>C | ||
| XR_001739062.1:n.2454G>C | ||
| XR_001739063.1:n.2161G>C | ||
| XR_001739064.1:n.2422G>C | ||
| XR_001739065.1:n.2366G>C | ||
| XR_001739066.1:n.2163G>C | ||
| XR_001739067.1:n.2070G>C | ||
| XR_001739068.1:n.2091G>C | ||
| XR_001739069.1:n.2268G>C | ||
| XR_001739070.1:n.2132G>C | ||
| XR_001739071.1:n.1990G>C | ||
| XR_001739072.1:n.2236G>C | ||
| XR_001739073.2:n.1591+3577G>C | ||
| XR_002959364.1:n.2162G>C | ||
| NM_001137550.2:c.1459+3577G>C MANE Select | NP_001131022.1:n.1459+3577G>C | |
| NM_001137552.2:c.2069G>C | NP_001131024.1:p.Arg690Thr | |
| NM_001137553.2:c.1901G>C | NP_001131025.1:p.Arg634Thr | |
| NM_004735.4:c.1997G>C | NP_004726.2:p.Arg666Thr | |
| NM_001137551.2:c.721+3577G>C | NP_001131023.1:n.721+3577G>C |