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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.239084220C= , CM000664.2:g.239084220C=
GRCh38
NC_000002.11:g.240005916C= , CM000664.1:g.240005916C=
GRCh37
NC_000002.10:g.239670853C=
NCBI36
NG_009235.1:g.321728G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000690129.1:n.481G=
ENST00000543185.6:c.2467G=
MANE Select
ENSP00000440481.3:p.Val823=
ENST00000345617.7:c.2452G=
ENSP00000264606.3:p.Val818=
ENST00000487617.5:n.359G=
ENST00000543185.5:c.2116G=
ENSP00000440481.2:p.Val706=
NM_006037.3:c.2452G=
NP_006028.2:p.Val818=
XM_006712877.2:c.2524G=
XP_006712940.1:p.Val842=
XM_006712878.2:c.2467G=
XP_006712941.1:p.Val823=
XM_006712879.2:c.2386G=
XP_006712942.1:p.Val796=
XM_006712880.2:c.2386G=
XP_006712943.1:p.Val796=
XM_011512217.1:c.2539G=
XP_011510519.1:p.Val847=
XM_011512218.1:c.2524G=
XP_011510520.1:p.Val842=
XM_011512219.1:c.2509G=
XP_011510521.1:p.Val837=
XM_011512220.1:c.2470G=
XP_011510522.1:p.Val824=
XM_011512221.1:c.2467G=
XP_011510523.1:p.Val823=
XM_011512222.1:c.2467G=
XP_011510524.1:p.Val823=
XM_011512223.1:c.2467G=
XP_011510525.1:p.Val823=
XM_011512224.1:c.2452G=
XP_011510526.1:p.Val818=
XM_011512225.1:c.2437G=
XP_011510527.1:p.Val813=
XM_011512226.1:c.2395G=
XP_011510528.1:p.Val799=
XM_011512227.1:c.2323G=
XP_011510529.1:p.Val775=
XM_011512228.1:c.2386G=
XP_011510530.1:p.Val796=
XM_011512229.1:c.2386G=
XP_011510531.1:p.Val796=
XM_011512230.1:c.1219G=
XP_011510532.1:p.Val407=
XM_006712877.3:c.2524G=
XP_006712940.1:p.Val842=
XM_006712878.3:c.2467G=
XP_006712941.1:p.Val823=
XM_006712879.3:c.2386G=
XP_006712942.1:p.Val796=
XM_006712880.3:c.2386G=
XP_006712943.1:p.Val796=
XM_011512217.2:c.2539G=
XP_011510519.1:p.Val847=
XM_011512218.2:c.2524G=
XP_011510520.1:p.Val842=
XM_011512219.2:c.2509G=
XP_011510521.1:p.Val837=
XM_011512220.2:c.2470G=
XP_011510522.1:p.Val824=
XM_011512222.3:c.2467G=
XP_011510524.1:p.Val823=
XM_011512223.2:c.2467G=
XP_011510525.1:p.Val823=
XM_011512224.2:c.2452G=
XP_011510526.1:p.Val818=
XM_011512225.2:c.2437G=
XP_011510527.1:p.Val813=
XM_011512226.2:c.2395G=
XP_011510528.1:p.Val799=
XM_011512227.2:c.2323G=
XP_011510529.1:p.Val775=
XM_017005394.1:c.2407G=
XP_016860883.1:p.Val803=
XM_017005395.1:c.1951G=
XP_016860884.1:p.Val651=
XM_024453257.1:c.2386G=
XP_024309025.1:p.Val796=
NM_001378414.1:c.2467G=
MANE Select
NP_001365343.1:p.Val823=
NM_001378415.1:c.2467G=
NP_001365344.1:p.Val823=
NM_001378416.1:c.2452G=
NP_001365345.1:p.Val818=
NM_001378417.1:c.2452G=
NP_001365346.1:p.Val818=
NM_006037.4:c.2452G=
NP_006028.2:p.Val818=