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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675514T>C , CM000671.2:g.97675514T>C
GRCh38
NC_000009.11:g.100437796T>C , CM000671.1:g.100437796T>C
GRCh37
NC_000009.10:g.99477617T>C
NCBI36
NG_011642.1:g.26896A>G , LRG_471:g.26896A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.747A>G
MANE Select
ENSP00000364270.5:p.Glu249=
ENST00000375128.4:c.747A>G
ENSP00000364270.4:p.Glu249=
ENST00000462523.5:c.*183A>G
ENSP00000433006.1:n.*183A>G
ENST00000485042.1:n.259A>G
NM_000380.3:c.747A>G , LRG_471t1:c.747A>G
NP_000371.1:p.Glu249=
NR_027302.1:n.1095A>G
XM_006717278.1:c.747A>G
XP_006717341.1:p.Glu249=
XM_011518988.1:c.747A>G
XP_011517290.1:p.Glu249=
XR_929839.1:n.1278A>G
NM_001354975.1:c.621A>G
NP_001341904.1:p.Glu207=
NR_149091.1:n.592A>G
NR_149092.1:n.758A>G
NR_149093.1:n.1284A>G
NR_149094.1:n.1178A>G
NM_000380.4:c.747A>G
MANE Select
NP_000371.1:p.Glu249=
NM_001354975.2:c.621A>G
NP_001341904.1:p.Glu207=
NR_027302.2:n.1026A>G
NR_149091.2:n.523A>G
NR_149092.2:n.689A>G
NR_149093.2:n.1215A>G
NR_149094.2:n.1109A>G