Linked Data
dbSNP Id:
rs567397963
ExAC:
2:238672568 A / G
gnomAD v2:
2-238672568-A-G
gnomAD v3:
2-237763925-A-G
gnomAD v4:
2-237763925-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237763925A>G , CM000664.2:g.237763925A>G | GRCh38 |
| NC_000002.11:g.238672568A>G , CM000664.1:g.238672568A>G | GRCh37 |
| NC_000002.10:g.238337307A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3720A>G | ||
| ENST00000698098.1:c.955+3720A>G | ENSP00000513562.1:n.955+3720A>G | |
| ENST00000308482.14:c.1459+3720A>G MANE Select | ENSP00000310109.9:n.1459+3720A>G | |
| ENST00000244815.9:c.2140A>G | ENSP00000244815.5:p.Ile714Val | |
| ENST00000289175.10:c.2044A>G | ENSP00000289175.6:p.Ile682Val | |
| ENST00000308482.13:c.1459+3720A>G | ENSP00000310109.9:n.1459+3720A>G | |
| ENST00000392000.4:c.2212A>G | ENSP00000375857.4:p.Ile738Val | |
| ENST00000483443.1:n.235+3720A>G | ||
| NM_001137550.1:c.1459+3720A>G | NP_001131022.1:n.1459+3720A>G | |
| NM_001137551.1:c.721+3720A>G | NP_001131023.1:n.721+3720A>G | |
| NM_001137552.1:c.2212A>G | NP_001131024.1:p.Ile738Val | |
| NM_001137553.1:c.2044A>G | NP_001131025.1:p.Ile682Val | |
| NM_004735.3:c.2140A>G | NP_004726.2:p.Ile714Val | |
| XM_005246112.3:c.2845A>G | XP_005246169.1:p.Ile949Val | |
| XM_005246115.3:c.2800A>G | XP_005246172.1:p.Ile934Val | |
| XM_005246116.3:c.2782A>G | XP_005246173.1:p.Ile928Val | |
| XM_005246118.3:c.2737A>G | XP_005246175.1:p.Ile913Val | |
| XM_005246119.3:c.2734A>G | XP_005246176.1:p.Ile912Val | |
| XM_005246120.3:c.2698A>G | XP_005246177.1:p.Ile900Val | |
| XM_005246121.3:c.2683A>G | XP_005246178.1:p.Ile895Val | |
| XM_005246122.3:c.2671A>G | XP_005246179.1:p.Ile891Val | |
| XM_005246124.1:c.2653A>G | XP_005246181.1:p.Ile885Val | |
| XM_005246125.3:c.2632A>G | XP_005246182.1:p.Ile878Val | |
| XM_005246126.3:c.2593A>G | XP_005246183.1:p.Ile865Val | |
| XM_005246128.1:c.2560A>G | XP_005246185.1:p.Ile854Val | |
| XM_005246129.3:c.2521A>G | XP_005246186.1:p.Ile841Val | |
| XM_005246130.3:c.2494A>G | XP_005246187.1:p.Ile832Val | |
| XM_005246131.3:c.2407A>G | XP_005246188.1:p.Ile803Val | |
| XM_005246132.3:c.2332A>G | XP_005246189.1:p.Ile778Val | |
| XM_005246133.1:c.2302A>G | XP_005246190.1:p.Ile768Val | |
| XM_005246134.1:c.2260A>G | XP_005246191.1:p.Ile754Val | |
| XM_005246135.1:c.2230A>G | XP_005246192.1:p.Ile744Val | |
| XM_005246136.1:c.2074A>G | XP_005246193.1:p.Ile692Val | |
| XM_005246141.3:c.823+3720A>G | XP_005246198.1:n.823+3720A>G | |
| XM_005246142.1:c.751+3720A>G | XP_005246199.1:n.751+3720A>G | |
| XM_006712842.2:c.2743A>G | XP_006712905.1:p.Ile915Val | |
| XM_006712843.2:c.2638A>G | XP_006712906.1:p.Ile880Val | |
| XM_006712844.1:c.2572A>G | XP_006712907.1:p.Ile858Val | |
| XM_006712845.2:c.2554A>G | XP_006712908.1:p.Ile852Val | |
| XM_006712846.1:c.2458A>G | XP_006712909.1:p.Ile820Val | |
| XM_006712847.1:c.2398A>G | XP_006712910.1:p.Ile800Val | |
| XM_006712848.1:c.2326A>G | XP_006712911.1:p.Ile776Val | |
| XM_011512152.1:c.2878A>G | XP_011510454.1:p.Ile960Val | |
| XM_011512153.1:c.2860A>G | XP_011510455.1:p.Ile954Val | |
| XM_011512154.1:c.2848A>G | XP_011510456.1:p.Ile950Val | |
| XM_011512155.1:c.2839A>G | XP_011510457.1:p.Ile947Val | |
| XM_011512156.1:c.2806A>G | XP_011510458.1:p.Ile936Val | |
| XM_011512157.1:c.2692A>G | XP_011510459.1:p.Ile898Val | |
| XM_011512158.1:c.2620A>G | XP_011510460.1:p.Ile874Val | |
| XM_011512159.1:c.2428A>G | XP_011510461.1:p.Ile810Val | |
| XM_011512160.1:c.1555+3720A>G | XP_011510462.1:n.1555+3720A>G | |
| XM_011512161.1:c.1555+3720A>G | XP_011510463.1:n.1555+3720A>G | |
| XM_011512162.1:c.1369+3720A>G | XP_011510464.1:n.1369+3720A>G | |
| XM_011512163.1:c.1297+3720A>G | XP_011510465.1:n.1297+3720A>G | |
| XM_011512164.1:c.751+3720A>G | XP_011510466.1:n.751+3720A>G | |
| XM_011512165.1:c.721+3720A>G | XP_011510467.1:n.721+3720A>G | |
| XM_011512166.1:c.1516+3720A>G | XP_011510468.1:n.1516+3720A>G | |
| XR_923063.1:n.1605+3720A>G | ||
| XM_005246141.4:c.823+3720A>G | XP_005246198.1:n.823+3720A>G | |
| XM_005246142.2:c.751+3720A>G | XP_005246199.1:n.751+3720A>G | |
| XM_017005253.2:c.1522+3720A>G | XP_016860742.1:n.1522+3720A>G | |
| XM_017005254.2:c.1522+3720A>G | XP_016860743.1:n.1522+3720A>G | |
| XM_017005255.2:c.1450+3720A>G | XP_016860744.1:n.1450+3720A>G | |
| XM_017005256.2:c.1336+3720A>G | XP_016860745.1:n.1336+3720A>G | |
| XM_017005257.2:c.1387+3720A>G | XP_016860746.1:n.1387+3720A>G | |
| XM_017005258.2:c.1336+3720A>G | XP_016860747.1:n.1336+3720A>G | |
| XM_017005260.2:c.1162+3720A>G | XP_016860749.1:n.1162+3720A>G | |
| XM_017005261.2:c.1099+3720A>G | XP_016860750.1:n.1099+3720A>G | |
| XM_017005262.2:c.1099+3720A>G | XP_016860751.1:n.1099+3720A>G | |
| XM_017005263.2:c.937+3720A>G | XP_016860752.1:n.937+3720A>G | |
| XR_001739039.2:n.2914A>G | ||
| XR_001739040.1:n.3079A>G | ||
| XR_001739041.2:n.2875A>G | ||
| XR_001739042.2:n.2851A>G | ||
| XR_001739043.1:n.2827A>G | ||
| XR_001739044.2:n.2842A>G | ||
| XR_001739045.2:n.2812A>G | ||
| XR_001739046.1:n.3159A>G | ||
| XR_001739047.2:n.2728A>G | ||
| XR_001739048.1:n.2917A>G | ||
| XR_001739049.2:n.2662A>G | ||
| XR_001739050.2:n.2623A>G | ||
| XR_001739051.2:n.2590A>G | ||
| XR_001739052.2:n.2563A>G | ||
| XR_001739053.1:n.2552A>G | ||
| XR_001739054.1:n.2474A>G | ||
| XR_001739055.2:n.2491A>G | ||
| XR_001739056.2:n.2476A>G | ||
| XR_001739057.1:n.2492A>G | ||
| XR_001739058.1:n.2671A>G | ||
| XR_001739059.2:n.2404A>G | ||
| XR_001739060.1:n.2378A>G | ||
| XR_001739061.1:n.2420A>G | ||
| XR_001739062.1:n.2597A>G | ||
| XR_001739063.1:n.2304A>G | ||
| XR_001739064.1:n.2565A>G | ||
| XR_001739065.1:n.2509A>G | ||
| XR_001739066.1:n.2306A>G | ||
| XR_001739067.1:n.2213A>G | ||
| XR_001739068.1:n.2234A>G | ||
| XR_001739069.1:n.2411A>G | ||
| XR_001739070.1:n.2275A>G | ||
| XR_001739071.1:n.2133A>G | ||
| XR_001739072.1:n.2379A>G | ||
| XR_001739073.2:n.1591+3720A>G | ||
| XR_002959364.1:n.2305A>G | ||
| NM_001137550.2:c.1459+3720A>G MANE Select | NP_001131022.1:n.1459+3720A>G | |
| NM_001137552.2:c.2212A>G | NP_001131024.1:p.Ile738Val | |
| NM_001137553.2:c.2044A>G | NP_001131025.1:p.Ile682Val | |
| NM_004735.4:c.2140A>G | NP_004726.2:p.Ile714Val | |
| NM_001137551.2:c.721+3720A>G | NP_001131023.1:n.721+3720A>G |