Linked Data
dbSNP Id:
rs141499041
ExAC:
2:238672556 C / T
gnomAD v2:
2-238672556-C-T
gnomAD v3:
2-237763913-C-T
gnomAD v4:
2-237763913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237763913C>T , CM000664.2:g.237763913C>T | GRCh38 |
| NC_000002.11:g.238672556C>T , CM000664.1:g.238672556C>T | GRCh37 |
| NC_000002.10:g.238337295C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3708C>T | ||
| ENST00000698098.1:c.955+3708C>T | ENSP00000513562.1:n.955+3708C>T | |
| ENST00000308482.14:c.1459+3708C>T MANE Select | ENSP00000310109.9:n.1459+3708C>T | |
| ENST00000244815.9:c.2128C>T | ENSP00000244815.5:p.Pro710Ser | |
| ENST00000289175.10:c.2032C>T | ENSP00000289175.6:p.Pro678Ser | |
| ENST00000308482.13:c.1459+3708C>T | ENSP00000310109.9:n.1459+3708C>T | |
| ENST00000392000.4:c.2200C>T | ENSP00000375857.4:p.Pro734Ser | |
| ENST00000483443.1:n.235+3708C>T | ||
| NM_001137550.1:c.1459+3708C>T | NP_001131022.1:n.1459+3708C>T | |
| NM_001137551.1:c.721+3708C>T | NP_001131023.1:n.721+3708C>T | |
| NM_001137552.1:c.2200C>T | NP_001131024.1:p.Pro734Ser | |
| NM_001137553.1:c.2032C>T | NP_001131025.1:p.Pro678Ser | |
| NM_004735.3:c.2128C>T | NP_004726.2:p.Pro710Ser | |
| XM_005246112.3:c.2833C>T | XP_005246169.1:p.Pro945Ser | |
| XM_005246115.3:c.2788C>T | XP_005246172.1:p.Pro930Ser | |
| XM_005246116.3:c.2770C>T | XP_005246173.1:p.Pro924Ser | |
| XM_005246118.3:c.2725C>T | XP_005246175.1:p.Pro909Ser | |
| XM_005246119.3:c.2722C>T | XP_005246176.1:p.Pro908Ser | |
| XM_005246120.3:c.2686C>T | XP_005246177.1:p.Pro896Ser | |
| XM_005246121.3:c.2671C>T | XP_005246178.1:p.Pro891Ser | |
| XM_005246122.3:c.2659C>T | XP_005246179.1:p.Pro887Ser | |
| XM_005246124.1:c.2641C>T | XP_005246181.1:p.Pro881Ser | |
| XM_005246125.3:c.2620C>T | XP_005246182.1:p.Pro874Ser | |
| XM_005246126.3:c.2581C>T | XP_005246183.1:p.Pro861Ser | |
| XM_005246128.1:c.2548C>T | XP_005246185.1:p.Pro850Ser | |
| XM_005246129.3:c.2509C>T | XP_005246186.1:p.Pro837Ser | |
| XM_005246130.3:c.2482C>T | XP_005246187.1:p.Pro828Ser | |
| XM_005246131.3:c.2395C>T | XP_005246188.1:p.Pro799Ser | |
| XM_005246132.3:c.2320C>T | XP_005246189.1:p.Pro774Ser | |
| XM_005246133.1:c.2290C>T | XP_005246190.1:p.Pro764Ser | |
| XM_005246134.1:c.2248C>T | XP_005246191.1:p.Pro750Ser | |
| XM_005246135.1:c.2218C>T | XP_005246192.1:p.Pro740Ser | |
| XM_005246136.1:c.2062C>T | XP_005246193.1:p.Pro688Ser | |
| XM_005246141.3:c.823+3708C>T | XP_005246198.1:n.823+3708C>T | |
| XM_005246142.1:c.751+3708C>T | XP_005246199.1:n.751+3708C>T | |
| XM_006712842.2:c.2731C>T | XP_006712905.1:p.Pro911Ser | |
| XM_006712843.2:c.2626C>T | XP_006712906.1:p.Pro876Ser | |
| XM_006712844.1:c.2560C>T | XP_006712907.1:p.Pro854Ser | |
| XM_006712845.2:c.2542C>T | XP_006712908.1:p.Pro848Ser | |
| XM_006712846.1:c.2446C>T | XP_006712909.1:p.Pro816Ser | |
| XM_006712847.1:c.2386C>T | XP_006712910.1:p.Pro796Ser | |
| XM_006712848.1:c.2314C>T | XP_006712911.1:p.Pro772Ser | |
| XM_011512152.1:c.2866C>T | XP_011510454.1:p.Pro956Ser | |
| XM_011512153.1:c.2848C>T | XP_011510455.1:p.Pro950Ser | |
| XM_011512154.1:c.2836C>T | XP_011510456.1:p.Pro946Ser | |
| XM_011512155.1:c.2827C>T | XP_011510457.1:p.Pro943Ser | |
| XM_011512156.1:c.2794C>T | XP_011510458.1:p.Pro932Ser | |
| XM_011512157.1:c.2680C>T | XP_011510459.1:p.Pro894Ser | |
| XM_011512158.1:c.2608C>T | XP_011510460.1:p.Pro870Ser | |
| XM_011512159.1:c.2416C>T | XP_011510461.1:p.Pro806Ser | |
| XM_011512160.1:c.1555+3708C>T | XP_011510462.1:n.1555+3708C>T | |
| XM_011512161.1:c.1555+3708C>T | XP_011510463.1:n.1555+3708C>T | |
| XM_011512162.1:c.1369+3708C>T | XP_011510464.1:n.1369+3708C>T | |
| XM_011512163.1:c.1297+3708C>T | XP_011510465.1:n.1297+3708C>T | |
| XM_011512164.1:c.751+3708C>T | XP_011510466.1:n.751+3708C>T | |
| XM_011512165.1:c.721+3708C>T | XP_011510467.1:n.721+3708C>T | |
| XM_011512166.1:c.1516+3708C>T | XP_011510468.1:n.1516+3708C>T | |
| XR_923063.1:n.1605+3708C>T | ||
| XM_005246141.4:c.823+3708C>T | XP_005246198.1:n.823+3708C>T | |
| XM_005246142.2:c.751+3708C>T | XP_005246199.1:n.751+3708C>T | |
| XM_017005253.2:c.1522+3708C>T | XP_016860742.1:n.1522+3708C>T | |
| XM_017005254.2:c.1522+3708C>T | XP_016860743.1:n.1522+3708C>T | |
| XM_017005255.2:c.1450+3708C>T | XP_016860744.1:n.1450+3708C>T | |
| XM_017005256.2:c.1336+3708C>T | XP_016860745.1:n.1336+3708C>T | |
| XM_017005257.2:c.1387+3708C>T | XP_016860746.1:n.1387+3708C>T | |
| XM_017005258.2:c.1336+3708C>T | XP_016860747.1:n.1336+3708C>T | |
| XM_017005260.2:c.1162+3708C>T | XP_016860749.1:n.1162+3708C>T | |
| XM_017005261.2:c.1099+3708C>T | XP_016860750.1:n.1099+3708C>T | |
| XM_017005262.2:c.1099+3708C>T | XP_016860751.1:n.1099+3708C>T | |
| XM_017005263.2:c.937+3708C>T | XP_016860752.1:n.937+3708C>T | |
| XR_001739039.2:n.2902C>T | ||
| XR_001739040.1:n.3067C>T | ||
| XR_001739041.2:n.2863C>T | ||
| XR_001739042.2:n.2839C>T | ||
| XR_001739043.1:n.2815C>T | ||
| XR_001739044.2:n.2830C>T | ||
| XR_001739045.2:n.2800C>T | ||
| XR_001739046.1:n.3147C>T | ||
| XR_001739047.2:n.2716C>T | ||
| XR_001739048.1:n.2905C>T | ||
| XR_001739049.2:n.2650C>T | ||
| XR_001739050.2:n.2611C>T | ||
| XR_001739051.2:n.2578C>T | ||
| XR_001739052.2:n.2551C>T | ||
| XR_001739053.1:n.2540C>T | ||
| XR_001739054.1:n.2462C>T | ||
| XR_001739055.2:n.2479C>T | ||
| XR_001739056.2:n.2464C>T | ||
| XR_001739057.1:n.2480C>T | ||
| XR_001739058.1:n.2659C>T | ||
| XR_001739059.2:n.2392C>T | ||
| XR_001739060.1:n.2366C>T | ||
| XR_001739061.1:n.2408C>T | ||
| XR_001739062.1:n.2585C>T | ||
| XR_001739063.1:n.2292C>T | ||
| XR_001739064.1:n.2553C>T | ||
| XR_001739065.1:n.2497C>T | ||
| XR_001739066.1:n.2294C>T | ||
| XR_001739067.1:n.2201C>T | ||
| XR_001739068.1:n.2222C>T | ||
| XR_001739069.1:n.2399C>T | ||
| XR_001739070.1:n.2263C>T | ||
| XR_001739071.1:n.2121C>T | ||
| XR_001739072.1:n.2367C>T | ||
| XR_001739073.2:n.1591+3708C>T | ||
| XR_002959364.1:n.2293C>T | ||
| NM_001137550.2:c.1459+3708C>T MANE Select | NP_001131022.1:n.1459+3708C>T | |
| NM_001137552.2:c.2200C>T | NP_001131024.1:p.Pro734Ser | |
| NM_001137553.2:c.2032C>T | NP_001131025.1:p.Pro678Ser | |
| NM_004735.4:c.2128C>T | NP_004726.2:p.Pro710Ser | |
| NM_001137551.2:c.721+3708C>T | NP_001131023.1:n.721+3708C>T |