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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31354479C= , CM000668.2:g.31354479C=
GRCh38
NC_000006.11:g.31322256C= , CM000668.1:g.31322256C=
GRCh37
NC_000006.10:g.31430235C=
NCBI36
NG_023187.1:g.7734G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000474381.2:n.3140G=
ENST00000481849.6:n.3100G=
ENST00000497377.6:n.3007G=
ENST00000696558.1:c.1162G=
ENSP00000512716.1:n.1162G=
ENST00000696559.1:c.*4G=
ENSP00000512717.1:n.*4G=
ENST00000696560.1:c.*4G=
ENSP00000512718.1:n.*4G=
ENST00000696561.1:c.*4G=
ENSP00000512719.1:n.*4G=
ENST00000696562.1:c.*4G=
ENSP00000512720.1:n.*4G=
ENST00000412585.7:c.*4G=
MANE Select
ENSP00000399168.2:n.*4G=
ENST00000412585.6:c.*4G=
ENSP00000399168.2:n.*4G=
ENST00000481849.5:n.328G=
ENST00000497377.5:n.492G=
NM_005514.6:c.*4G=
NP_005505.2:n.*4G=
XM_011514556.1:c.*4G=
XP_011512858.1:n.*4G=
XM_011514557.1:c.*4G=
XP_011512859.1:n.*4G=
XR_926175.1:n.1532G=
NM_005514.7:c.*4G=
NP_005505.2:n.*4G=
NM_005514.8:c.*4G=
MANE Select
NP_005505.2:n.*4G=