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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98926602A>G , CM000668.2:g.98926602A>G
GRCh38
NC_000006.11:g.99374478A>G , CM000668.1:g.99374478A>G
GRCh37
NC_000006.10:g.99481199A>G
NCBI36
NG_033903.1:g.26405T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369244.7:c.387T>C
MANE Select
ENSP00000358247.1:p.Leu129=
ENST00000229971.2:c.387T>C
ENSP00000229971.1:p.Leu129=
ENST00000369244.6:c.387T>C
ENSP00000358247.1:p.Leu129=
NM_001278716.1:c.387T>C
NP_001265645.1:p.Leu129=
NM_012160.4:c.387T>C
NP_036292.2:p.Leu129=
NR_103836.1:n.778T>C
NR_103837.1:n.778T>C
XM_005266930.1:c.387T>C
XP_005266987.1:p.Leu129=
XM_011535748.1:c.387T>C
XP_011534050.1:p.Leu129=
XM_005266930.3:c.387T>C
XP_005266987.1:p.Leu129=
XM_011535748.3:c.387T>C
XP_011534050.1:p.Leu129=
XM_017010726.1:c.387T>C
XP_016866215.1:p.Leu129=
XM_017010727.2:c.387T>C
XP_016866216.1:p.Leu129=
XM_017010728.1:c.-416T>C
XP_016866217.1:n.-416T>C
NM_001278716.2:c.387T>C
MANE Select
NP_001265645.1:p.Leu129=
NR_103836.2:n.718T>C
NR_103837.2:n.718T>C
NM_012160.5:c.387T>C
NP_036292.2:p.Leu129=