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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725213C>G , CM000682.2:g.46725213C>G
GRCh38
NC_000020.10:g.45353852C>G , CM000682.1:g.45353852C>G
GRCh37
NC_000020.9:g.44787259C>G
NCBI36
NG_016284.1:g.20574C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.177C>G
MANE Select
ENSP00000352216.2:p.Leu59=
ENST00000359271.3:c.177C>G
ENSP00000352216.2:p.Leu59=
ENST00000611837.1:n.329C>G
NM_030777.3:c.177C>G
NP_110404.1:p.Leu59=
XM_011529060.1:c.240C>G
XP_011527362.1:p.Leu80=
XM_011529061.1:c.186C>G
XP_011527363.1:p.Leu62=
XM_011529062.1:c.240C>G
XP_011527364.1:p.Leu80=
XM_011529063.1:c.240C>G
XP_011527365.1:p.Leu80=
XM_011529064.1:c.240C>G
XP_011527366.1:p.Leu80=
XM_011529065.1:c.240C>G
XP_011527367.1:p.Leu80=
XR_936641.1:n.376C>G
XM_011529060.2:c.240C>G
XP_011527362.1:p.Leu80=
XM_011529061.2:c.186C>G
XP_011527363.1:p.Leu62=
XM_011529062.2:c.240C>G
XP_011527364.1:p.Leu80=
XM_011529063.2:c.240C>G
XP_011527365.1:p.Leu80=
XM_011529064.2:c.240C>G
XP_011527366.1:p.Leu80=
XM_011529065.2:c.240C>G
XP_011527367.1:p.Leu80=
XM_017028087.2:c.177C>G
XP_016883576.1:p.Leu59=
XR_936641.2:n.363C>G
NM_030777.4:c.177C>G
MANE Select
NP_110404.1:p.Leu59=