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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127426215C= , CM000664.2:g.127426215C=
GRCh38
NC_000002.11:g.128183791C= , CM000664.1:g.128183791C=
GRCh37
NC_000002.10:g.127900261C=
NCBI36
NG_016323.1:g.12796C= , LRG_599:g.12796C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234071.8:c.666C=
MANE Select
ENSP00000234071.4:p.Asp222=
ENST00000234071.7:c.666C=
ENSP00000234071.3:p.Asp222=
ENST00000402125.2:c.121-2142C=
ENST00000409048.1:c.768C=
ENSP00000386679.1:p.Asp256=
ENST00000464089.1:n.252C=
NM_000312.3:c.666C= , LRG_599t1:c.666C=
NP_000303.1:p.Asp222=
XM_005263715.3:c.849C=
XP_005263772.1:p.Asp283=
XM_005263716.3:c.831C=
XP_005263773.1:p.Asp277=
XM_005263717.3:c.729C=
XP_005263774.1:p.Asp243=
XM_005263717.4:c.729C=
XP_005263774.1:p.Asp243=
XM_017004505.1:c.909C=
XP_016859994.1:p.Asp303=
XM_024453002.1:c.1011C=
XP_024308770.1:p.Asp337=
XM_024453003.1:c.951C=
XP_024308771.1:p.Asp317=
XM_024453004.1:c.849C=
XP_024308772.1:p.Asp283=
XM_024453005.1:c.831C=
XP_024308773.1:p.Asp277=
XM_024453006.1:c.768C=
XP_024308774.1:p.Asp256=
XR_923313.2:n.4370G=
NM_000312.4:c.666C=
MANE Select
NP_000303.1:p.Asp222=
NM_001375602.1:c.849C=
NP_001362531.1:p.Asp283=
NM_001375603.1:c.831C=
NP_001362532.1:p.Asp277=
NM_001375604.1:c.729C=
NP_001362533.1:p.Asp243=
NM_001375605.1:c.768C=
NP_001362534.1:p.Asp256=
NM_001375606.1:c.834C=
NP_001362535.1:p.Asp278=
NM_001375607.1:c.852C=
NP_001362536.1:p.Asp284=
NM_001375608.1:c.609C=
NP_001362537.1:p.Asp203=
NM_001375609.1:c.642C=
NP_001362538.1:p.Asp214=
NM_001375610.1:c.660C=
NP_001362539.1:p.Asp220=
NM_001375611.1:c.666C=
NP_001362540.1:p.Asp222=
NM_001375613.1:c.666C=
NP_001362542.1:p.Asp222=