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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.46266016C>G , CM000683.2:g.46266016C>G
GRCh38
NC_000021.8:g.47685930C>G , CM000683.1:g.47685930C>G
GRCh37
NC_000021.7:g.46510358C>G
NCBI36
NG_033881.1:g.24307G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000291688.6:c.2940G>C
MANE Select
ENSP00000291688.1:p.Val980=
ENST00000291688.5:c.2940G>C
ENSP00000291688.1:p.Val980=
ENST00000397708.1:c.2940G>C
ENSP00000380820.1:p.Val980=
ENST00000486937.5:n.1232G>C
ENST00000496607.5:n.937G>C
NM_003906.4:c.2940G>C
NP_003897.2:p.Val980=
XM_005261203.3:c.2940G>C
XP_005261260.1:p.Val980=
XM_005261204.3:c.2940G>C
XP_005261261.1:p.Val980=
XM_005261205.2:c.2940G>C
XP_005261262.1:p.Val980=
XM_005261206.3:c.2940G>C
XP_005261263.1:p.Val980=
XM_006724064.2:c.2940G>C
XP_006724127.1:p.Val980=
XR_937577.1:n.3529G>C
XM_005261203.4:c.2940G>C
XP_005261260.1:p.Val980=
XM_005261204.5:c.2940G>C
XP_005261261.1:p.Val980=
XM_005261205.4:c.2940G>C
XP_005261262.1:p.Val980=
NM_003906.5:c.2940G>C
MANE Select
NP_003897.2:p.Val980=