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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725240C>A , CM000682.2:g.46725240C>A
GRCh38
NC_000020.10:g.45353879C>A , CM000682.1:g.45353879C>A
GRCh37
NC_000020.9:g.44787286C>A
NCBI36
NG_016284.1:g.20601C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.204C>A
MANE Select
ENSP00000352216.2:p.Leu68=
ENST00000359271.3:c.204C>A
ENSP00000352216.2:p.Leu68=
ENST00000611837.1:n.356C>A
NM_030777.3:c.204C>A
NP_110404.1:p.Leu68=
XM_011529060.1:c.267C>A
XP_011527362.1:p.Leu89=
XM_011529061.1:c.213C>A
XP_011527363.1:p.Leu71=
XM_011529062.1:c.267C>A
XP_011527364.1:p.Leu89=
XM_011529063.1:c.267C>A
XP_011527365.1:p.Leu89=
XM_011529064.1:c.267C>A
XP_011527366.1:p.Leu89=
XM_011529065.1:c.267C>A
XP_011527367.1:p.Leu89=
XR_936641.1:n.403C>A
XM_011529060.2:c.267C>A
XP_011527362.1:p.Leu89=
XM_011529061.2:c.213C>A
XP_011527363.1:p.Leu71=
XM_011529062.2:c.267C>A
XP_011527364.1:p.Leu89=
XM_011529063.2:c.267C>A
XP_011527365.1:p.Leu89=
XM_011529064.2:c.267C>A
XP_011527366.1:p.Leu89=
XM_011529065.2:c.267C>A
XP_011527367.1:p.Leu89=
XM_017028087.2:c.204C>A
XP_016883576.1:p.Leu68=
XR_936641.2:n.390C>A
NM_030777.4:c.204C>A
MANE Select
NP_110404.1:p.Leu68=