Linked Data
dbSNP Id:
rs536891978
ExAC:
2:238672544 G / A
gnomAD v2:
2-238672544-G-A
gnomAD v3:
2-237763901-G-A
gnomAD v4:
2-237763901-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237763901G>A , CM000664.2:g.237763901G>A | GRCh38 |
| NC_000002.11:g.238672544G>A , CM000664.1:g.238672544G>A | GRCh37 |
| NC_000002.10:g.238337283G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3696G>A | ||
| ENST00000698098.1:c.955+3696G>A | ENSP00000513562.1:n.955+3696G>A | |
| ENST00000308482.14:c.1459+3696G>A MANE Select | ENSP00000310109.9:n.1459+3696G>A | |
| ENST00000244815.9:c.2116G>A | ENSP00000244815.5:p.Glu706Lys | |
| ENST00000289175.10:c.2020G>A | ENSP00000289175.6:p.Glu674Lys | |
| ENST00000308482.13:c.1459+3696G>A | ENSP00000310109.9:n.1459+3696G>A | |
| ENST00000392000.4:c.2188G>A | ENSP00000375857.4:p.Glu730Lys | |
| ENST00000483443.1:n.235+3696G>A | ||
| NM_001137550.1:c.1459+3696G>A | NP_001131022.1:n.1459+3696G>A | |
| NM_001137551.1:c.721+3696G>A | NP_001131023.1:n.721+3696G>A | |
| NM_001137552.1:c.2188G>A | NP_001131024.1:p.Glu730Lys | |
| NM_001137553.1:c.2020G>A | NP_001131025.1:p.Glu674Lys | |
| NM_004735.3:c.2116G>A | NP_004726.2:p.Glu706Lys | |
| XM_005246112.3:c.2821G>A | XP_005246169.1:p.Glu941Lys | |
| XM_005246115.3:c.2776G>A | XP_005246172.1:p.Glu926Lys | |
| XM_005246116.3:c.2758G>A | XP_005246173.1:p.Glu920Lys | |
| XM_005246118.3:c.2713G>A | XP_005246175.1:p.Glu905Lys | |
| XM_005246119.3:c.2710G>A | XP_005246176.1:p.Glu904Lys | |
| XM_005246120.3:c.2674G>A | XP_005246177.1:p.Glu892Lys | |
| XM_005246121.3:c.2659G>A | XP_005246178.1:p.Glu887Lys | |
| XM_005246122.3:c.2647G>A | XP_005246179.1:p.Glu883Lys | |
| XM_005246124.1:c.2629G>A | XP_005246181.1:p.Glu877Lys | |
| XM_005246125.3:c.2608G>A | XP_005246182.1:p.Glu870Lys | |
| XM_005246126.3:c.2569G>A | XP_005246183.1:p.Glu857Lys | |
| XM_005246128.1:c.2536G>A | XP_005246185.1:p.Glu846Lys | |
| XM_005246129.3:c.2497G>A | XP_005246186.1:p.Glu833Lys | |
| XM_005246130.3:c.2470G>A | XP_005246187.1:p.Glu824Lys | |
| XM_005246131.3:c.2383G>A | XP_005246188.1:p.Glu795Lys | |
| XM_005246132.3:c.2308G>A | XP_005246189.1:p.Glu770Lys | |
| XM_005246133.1:c.2278G>A | XP_005246190.1:p.Glu760Lys | |
| XM_005246134.1:c.2236G>A | XP_005246191.1:p.Glu746Lys | |
| XM_005246135.1:c.2206G>A | XP_005246192.1:p.Glu736Lys | |
| XM_005246136.1:c.2050G>A | XP_005246193.1:p.Glu684Lys | |
| XM_005246141.3:c.823+3696G>A | XP_005246198.1:n.823+3696G>A | |
| XM_005246142.1:c.751+3696G>A | XP_005246199.1:n.751+3696G>A | |
| XM_006712842.2:c.2719G>A | XP_006712905.1:p.Glu907Lys | |
| XM_006712843.2:c.2614G>A | XP_006712906.1:p.Glu872Lys | |
| XM_006712844.1:c.2548G>A | XP_006712907.1:p.Glu850Lys | |
| XM_006712845.2:c.2530G>A | XP_006712908.1:p.Glu844Lys | |
| XM_006712846.1:c.2434G>A | XP_006712909.1:p.Glu812Lys | |
| XM_006712847.1:c.2374G>A | XP_006712910.1:p.Glu792Lys | |
| XM_006712848.1:c.2302G>A | XP_006712911.1:p.Glu768Lys | |
| XM_011512152.1:c.2854G>A | XP_011510454.1:p.Glu952Lys | |
| XM_011512153.1:c.2836G>A | XP_011510455.1:p.Glu946Lys | |
| XM_011512154.1:c.2824G>A | XP_011510456.1:p.Glu942Lys | |
| XM_011512155.1:c.2815G>A | XP_011510457.1:p.Glu939Lys | |
| XM_011512156.1:c.2782G>A | XP_011510458.1:p.Glu928Lys | |
| XM_011512157.1:c.2668G>A | XP_011510459.1:p.Glu890Lys | |
| XM_011512158.1:c.2596G>A | XP_011510460.1:p.Glu866Lys | |
| XM_011512159.1:c.2404G>A | XP_011510461.1:p.Glu802Lys | |
| XM_011512160.1:c.1555+3696G>A | XP_011510462.1:n.1555+3696G>A | |
| XM_011512161.1:c.1555+3696G>A | XP_011510463.1:n.1555+3696G>A | |
| XM_011512162.1:c.1369+3696G>A | XP_011510464.1:n.1369+3696G>A | |
| XM_011512163.1:c.1297+3696G>A | XP_011510465.1:n.1297+3696G>A | |
| XM_011512164.1:c.751+3696G>A | XP_011510466.1:n.751+3696G>A | |
| XM_011512165.1:c.721+3696G>A | XP_011510467.1:n.721+3696G>A | |
| XM_011512166.1:c.1516+3696G>A | XP_011510468.1:n.1516+3696G>A | |
| XR_923063.1:n.1605+3696G>A | ||
| XM_005246141.4:c.823+3696G>A | XP_005246198.1:n.823+3696G>A | |
| XM_005246142.2:c.751+3696G>A | XP_005246199.1:n.751+3696G>A | |
| XM_017005253.2:c.1522+3696G>A | XP_016860742.1:n.1522+3696G>A | |
| XM_017005254.2:c.1522+3696G>A | XP_016860743.1:n.1522+3696G>A | |
| XM_017005255.2:c.1450+3696G>A | XP_016860744.1:n.1450+3696G>A | |
| XM_017005256.2:c.1336+3696G>A | XP_016860745.1:n.1336+3696G>A | |
| XM_017005257.2:c.1387+3696G>A | XP_016860746.1:n.1387+3696G>A | |
| XM_017005258.2:c.1336+3696G>A | XP_016860747.1:n.1336+3696G>A | |
| XM_017005260.2:c.1162+3696G>A | XP_016860749.1:n.1162+3696G>A | |
| XM_017005261.2:c.1099+3696G>A | XP_016860750.1:n.1099+3696G>A | |
| XM_017005262.2:c.1099+3696G>A | XP_016860751.1:n.1099+3696G>A | |
| XM_017005263.2:c.937+3696G>A | XP_016860752.1:n.937+3696G>A | |
| XR_001739039.2:n.2890G>A | ||
| XR_001739040.1:n.3055G>A | ||
| XR_001739041.2:n.2851G>A | ||
| XR_001739042.2:n.2827G>A | ||
| XR_001739043.1:n.2803G>A | ||
| XR_001739044.2:n.2818G>A | ||
| XR_001739045.2:n.2788G>A | ||
| XR_001739046.1:n.3135G>A | ||
| XR_001739047.2:n.2704G>A | ||
| XR_001739048.1:n.2893G>A | ||
| XR_001739049.2:n.2638G>A | ||
| XR_001739050.2:n.2599G>A | ||
| XR_001739051.2:n.2566G>A | ||
| XR_001739052.2:n.2539G>A | ||
| XR_001739053.1:n.2528G>A | ||
| XR_001739054.1:n.2450G>A | ||
| XR_001739055.2:n.2467G>A | ||
| XR_001739056.2:n.2452G>A | ||
| XR_001739057.1:n.2468G>A | ||
| XR_001739058.1:n.2647G>A | ||
| XR_001739059.2:n.2380G>A | ||
| XR_001739060.1:n.2354G>A | ||
| XR_001739061.1:n.2396G>A | ||
| XR_001739062.1:n.2573G>A | ||
| XR_001739063.1:n.2280G>A | ||
| XR_001739064.1:n.2541G>A | ||
| XR_001739065.1:n.2485G>A | ||
| XR_001739066.1:n.2282G>A | ||
| XR_001739067.1:n.2189G>A | ||
| XR_001739068.1:n.2210G>A | ||
| XR_001739069.1:n.2387G>A | ||
| XR_001739070.1:n.2251G>A | ||
| XR_001739071.1:n.2109G>A | ||
| XR_001739072.1:n.2355G>A | ||
| XR_001739073.2:n.1591+3696G>A | ||
| XR_002959364.1:n.2281G>A | ||
| NM_001137550.2:c.1459+3696G>A MANE Select | NP_001131022.1:n.1459+3696G>A | |
| NM_001137552.2:c.2188G>A | NP_001131024.1:p.Glu730Lys | |
| NM_001137553.2:c.2020G>A | NP_001131025.1:p.Glu674Lys | |
| NM_004735.4:c.2116G>A | NP_004726.2:p.Glu706Lys | |
| NM_001137551.2:c.721+3696G>A | NP_001131023.1:n.721+3696G>A |