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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143728330C>G , CM000670.2:g.143728330C>G
GRCh38
NC_000008.10:g.144810500C>G , CM000670.1:g.144810500C>G
GRCh37
NC_000008.9:g.144882488C>G
NCBI36
NG_016652.1:g.10415G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.1131G>C
MANE Select
ENSP00000373565.3:p.Ser377=
ENST00000650760.1:c.1734G>C
ENSP00000499217.1:p.Ser578=
ENST00000388913.3:c.1131G>C
ENSP00000373565.3:p.Ser377=
ENST00000395103.2:c.311G>C
NM_198488.3:c.1131G>C
NP_940890.3:p.Ser377=
XM_005250887.2:c.1188G>C
XP_005250944.1:p.Ser396=
XM_005250888.2:c.1149G>C
XP_005250945.1:p.Ser383=
XM_005250889.2:c.1131G>C
XP_005250946.1:p.Ser377=
XM_011516980.1:c.1452G>C
XP_011515282.1:p.Ser484=
XM_011516981.1:c.1299G>C
XP_011515283.1:p.Ser433=
XM_005250887.3:c.1188G>C
XP_005250944.1:p.Ser396=
XM_005250888.3:c.1149G>C
XP_005250945.1:p.Ser383=
XM_005250889.3:c.1131G>C
XP_005250946.1:p.Ser377=
XM_011516980.2:c.1734G>C
XP_011515282.2:p.Ser578=
XM_011516981.2:c.1299G>C
XP_011515283.1:p.Ser433=
XM_024447131.1:c.1131G>C
XP_024302899.1:p.Ser377=
NM_198488.4:c.1131G>C
NP_940890.3:p.Ser377=
NM_198488.5:c.1131G>C
MANE Select
NP_940890.4:p.Ser377=