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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127426185C>G , CM000664.2:g.127426185C>G
GRCh38
NC_000002.11:g.128183761C>G , CM000664.1:g.128183761C>G
GRCh37
NC_000002.10:g.127900231C>G
NCBI36
NG_016323.1:g.12766C>G , LRG_599:g.12766C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.636C>G
MANE Select
ENSP00000234071.4:p.Leu212=
ENST00000234071.7:c.636C>G
ENSP00000234071.3:p.Leu212=
ENST00000402125.2:c.121-2172C>G
ENST00000409048.1:c.738C>G
ENSP00000386679.1:p.Leu246=
ENST00000464089.1:n.222C>G
NM_000312.3:c.636C>G , LRG_599t1:c.636C>G
NP_000303.1:p.Leu212=
XM_005263715.3:c.819C>G
XP_005263772.1:p.Leu273=
XM_005263716.3:c.801C>G
XP_005263773.1:p.Leu267=
XM_005263717.3:c.699C>G
XP_005263774.1:p.Leu233=
XM_005263717.4:c.699C>G
XP_005263774.1:p.Leu233=
XM_017004505.1:c.879C>G
XP_016859994.1:p.Leu293=
XM_024453002.1:c.981C>G
XP_024308770.1:p.Leu327=
XM_024453003.1:c.921C>G
XP_024308771.1:p.Leu307=
XM_024453004.1:c.819C>G
XP_024308772.1:p.Leu273=
XM_024453005.1:c.801C>G
XP_024308773.1:p.Leu267=
XM_024453006.1:c.738C>G
XP_024308774.1:p.Leu246=
XR_923313.2:n.4400G>C
NM_000312.4:c.636C>G
MANE Select
NP_000303.1:p.Leu212=
NM_001375602.1:c.819C>G
NP_001362531.1:p.Leu273=
NM_001375603.1:c.801C>G
NP_001362532.1:p.Leu267=
NM_001375604.1:c.699C>G
NP_001362533.1:p.Leu233=
NM_001375605.1:c.738C>G
NP_001362534.1:p.Leu246=
NM_001375606.1:c.804C>G
NP_001362535.1:p.Leu268=
NM_001375607.1:c.822C>G
NP_001362536.1:p.Leu274=
NM_001375608.1:c.579C>G
NP_001362537.1:p.Leu193=
NM_001375609.1:c.612C>G
NP_001362538.1:p.Leu204=
NM_001375610.1:c.630C>G
NP_001362539.1:p.Leu210=
NM_001375611.1:c.636C>G
NP_001362540.1:p.Leu212=
NM_001375613.1:c.636C>G
NP_001362542.1:p.Leu212=