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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.18281119G>T , CM000683.2:g.18281119G>T
GRCh38
NC_000021.8:g.19653436G>T , CM000683.1:g.19653436G>T
GRCh37
NC_000021.7:g.18575307G>T
NCBI36
NG_012207.1:g.127535C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000284885.8:c.2589C>A
MANE Select
ENSP00000284885.3:p.Val863=
ENST00000284885.7:c.2589C>A
ENSP00000284885.3:p.Val863=
NM_002772.2:c.2589C>A
NP_002763.2:p.Val863=
XM_011529654.1:c.2724C>A
XP_011527956.1:p.Val908=
XM_011529655.1:c.2724C>A
XP_011527957.1:p.Val908=
XM_011529656.1:c.2724C>A
XP_011527958.1:p.Val908=
XM_011529657.1:c.2679C>A
XP_011527959.1:p.Val893=
XM_011529658.1:c.2643C>A
XP_011527960.1:p.Val881=
XM_011529659.1:c.2634C>A
XP_011527961.1:p.Val878=
XM_011529654.2:c.2724C>A
XP_011527956.1:p.Val908=
XM_011529656.2:c.2724C>A
XP_011527958.1:p.Val908=
XM_011529657.2:c.2679C>A
XP_011527959.1:p.Val893=
XM_011529658.2:c.2643C>A
XP_011527960.1:p.Val881=
NM_002772.3:c.2589C>A
MANE Select
NP_002763.3:p.Val863=