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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.18281064G>A , CM000683.2:g.18281064G>A
GRCh38
NC_000021.8:g.19653381G>A , CM000683.1:g.19653381G>A
GRCh37
NC_000021.7:g.18575252G>A
NCBI36
NG_012207.1:g.127590C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000284885.8:c.2644C>T
MANE Select
ENSP00000284885.3:p.Leu882=
ENST00000284885.7:c.2644C>T
ENSP00000284885.3:p.Leu882=
NM_002772.2:c.2644C>T
NP_002763.2:p.Leu882=
XM_011529654.1:c.2779C>T
XP_011527956.1:p.Leu927=
XM_011529655.1:c.2779C>T
XP_011527957.1:p.Leu927=
XM_011529656.1:c.2779C>T
XP_011527958.1:p.Leu927=
XM_011529657.1:c.2734C>T
XP_011527959.1:p.Leu912=
XM_011529658.1:c.2698C>T
XP_011527960.1:p.Leu900=
XM_011529659.1:c.2689C>T
XP_011527961.1:p.Leu897=
XM_011529654.2:c.2779C>T
XP_011527956.1:p.Leu927=
XM_011529656.2:c.2779C>T
XP_011527958.1:p.Leu927=
XM_011529657.2:c.2734C>T
XP_011527959.1:p.Leu912=
XM_011529658.2:c.2698C>T
XP_011527960.1:p.Leu900=
NM_002772.3:c.2644C>T
MANE Select
NP_002763.3:p.Leu882=