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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127426173A>C , CM000664.2:g.127426173A>C
GRCh38
NC_000002.11:g.128183749A>C , CM000664.1:g.128183749A>C
GRCh37
NC_000002.10:g.127900219A>C
NCBI36
NG_016323.1:g.12754A>C , LRG_599:g.12754A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.624A>C
MANE Select
ENSP00000234071.4:p.Val208=
ENST00000234071.7:c.624A>C
ENSP00000234071.3:p.Val208=
ENST00000402125.2:c.121-2184A>C
ENST00000409048.1:c.726A>C
ENSP00000386679.1:p.Val242=
ENST00000464089.1:n.210A>C
NM_000312.3:c.624A>C , LRG_599t1:c.624A>C
NP_000303.1:p.Val208=
XM_005263715.3:c.807A>C
XP_005263772.1:p.Val269=
XM_005263716.3:c.789A>C
XP_005263773.1:p.Val263=
XM_005263717.3:c.687A>C
XP_005263774.1:p.Val229=
XM_005263717.4:c.687A>C
XP_005263774.1:p.Val229=
XM_017004505.1:c.867A>C
XP_016859994.1:p.Val289=
XM_024453002.1:c.969A>C
XP_024308770.1:p.Val323=
XM_024453003.1:c.909A>C
XP_024308771.1:p.Val303=
XM_024453004.1:c.807A>C
XP_024308772.1:p.Val269=
XM_024453005.1:c.789A>C
XP_024308773.1:p.Val263=
XM_024453006.1:c.726A>C
XP_024308774.1:p.Val242=
XR_923313.2:n.4412T>G
NM_000312.4:c.624A>C
MANE Select
NP_000303.1:p.Val208=
NM_001375602.1:c.807A>C
NP_001362531.1:p.Val269=
NM_001375603.1:c.789A>C
NP_001362532.1:p.Val263=
NM_001375604.1:c.687A>C
NP_001362533.1:p.Val229=
NM_001375605.1:c.726A>C
NP_001362534.1:p.Val242=
NM_001375606.1:c.792A>C
NP_001362535.1:p.Val264=
NM_001375607.1:c.810A>C
NP_001362536.1:p.Val270=
NM_001375608.1:c.567A>C
NP_001362537.1:p.Val189=
NM_001375609.1:c.600A>C
NP_001362538.1:p.Val200=
NM_001375610.1:c.618A>C
NP_001362539.1:p.Val206=
NM_001375611.1:c.624A>C
NP_001362540.1:p.Val208=
NM_001375613.1:c.624A>C
NP_001362542.1:p.Val208=