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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.239084200A>G , CM000664.2:g.239084200A>G
GRCh38
NC_000002.11:g.240005896A>G , CM000664.1:g.240005896A>G
GRCh37
NC_000002.10:g.239670833A>G
NCBI36
NG_009235.1:g.321748T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000690129.1:n.501T>C
ENST00000543185.6:c.2487T>C
MANE Select
ENSP00000440481.3:p.Leu829=
ENST00000345617.7:c.2472T>C
ENSP00000264606.3:p.Leu824=
ENST00000487617.5:n.379T>C
ENST00000543185.5:c.2136T>C
ENSP00000440481.2:p.Leu712=
NM_006037.3:c.2472T>C
NP_006028.2:p.Leu824=
XM_006712877.2:c.2544T>C
XP_006712940.1:p.Leu848=
XM_006712878.2:c.2487T>C
XP_006712941.1:p.Leu829=
XM_006712879.2:c.2406T>C
XP_006712942.1:p.Leu802=
XM_006712880.2:c.2406T>C
XP_006712943.1:p.Leu802=
XM_011512217.1:c.2559T>C
XP_011510519.1:p.Leu853=
XM_011512218.1:c.2544T>C
XP_011510520.1:p.Leu848=
XM_011512219.1:c.2529T>C
XP_011510521.1:p.Leu843=
XM_011512220.1:c.2490T>C
XP_011510522.1:p.Leu830=
XM_011512221.1:c.2487T>C
XP_011510523.1:p.Leu829=
XM_011512222.1:c.2487T>C
XP_011510524.1:p.Leu829=
XM_011512223.1:c.2487T>C
XP_011510525.1:p.Leu829=
XM_011512224.1:c.2472T>C
XP_011510526.1:p.Leu824=
XM_011512225.1:c.2457T>C
XP_011510527.1:p.Leu819=
XM_011512226.1:c.2415T>C
XP_011510528.1:p.Leu805=
XM_011512227.1:c.2343T>C
XP_011510529.1:p.Leu781=
XM_011512228.1:c.2406T>C
XP_011510530.1:p.Leu802=
XM_011512229.1:c.2406T>C
XP_011510531.1:p.Leu802=
XM_011512230.1:c.1239T>C
XP_011510532.1:p.Leu413=
XM_006712877.3:c.2544T>C
XP_006712940.1:p.Leu848=
XM_006712878.3:c.2487T>C
XP_006712941.1:p.Leu829=
XM_006712879.3:c.2406T>C
XP_006712942.1:p.Leu802=
XM_006712880.3:c.2406T>C
XP_006712943.1:p.Leu802=
XM_011512217.2:c.2559T>C
XP_011510519.1:p.Leu853=
XM_011512218.2:c.2544T>C
XP_011510520.1:p.Leu848=
XM_011512219.2:c.2529T>C
XP_011510521.1:p.Leu843=
XM_011512220.2:c.2490T>C
XP_011510522.1:p.Leu830=
XM_011512222.3:c.2487T>C
XP_011510524.1:p.Leu829=
XM_011512223.2:c.2487T>C
XP_011510525.1:p.Leu829=
XM_011512224.2:c.2472T>C
XP_011510526.1:p.Leu824=
XM_011512225.2:c.2457T>C
XP_011510527.1:p.Leu819=
XM_011512226.2:c.2415T>C
XP_011510528.1:p.Leu805=
XM_011512227.2:c.2343T>C
XP_011510529.1:p.Leu781=
XM_017005394.1:c.2427T>C
XP_016860883.1:p.Leu809=
XM_017005395.1:c.1971T>C
XP_016860884.1:p.Leu657=
XM_024453257.1:c.2406T>C
XP_024309025.1:p.Leu802=
NM_001378414.1:c.2487T>C
MANE Select
NP_001365343.1:p.Leu829=
NM_001378415.1:c.2487T>C
NP_001365344.1:p.Leu829=
NM_001378416.1:c.2472T>C
NP_001365345.1:p.Leu824=
NM_001378417.1:c.2472T>C
NP_001365346.1:p.Leu824=
NM_006037.4:c.2472T>C
NP_006028.2:p.Leu824=