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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675523A= , CM000671.2:g.97675523A=
GRCh38
NC_000009.11:g.100437805A= , CM000671.1:g.100437805A=
GRCh37
NC_000009.10:g.99477626A=
NCBI36
NG_011642.1:g.26887T= , LRG_471:g.26887T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.738T=
MANE Select
ENSP00000364270.5:p.Tyr246=
ENST00000375128.4:c.738T=
ENSP00000364270.4:p.Tyr246=
ENST00000462523.5:c.*174T=
ENSP00000433006.1:n.*174T=
ENST00000485042.1:n.250T=
NM_000380.3:c.738T= , LRG_471t1:c.738T=
NP_000371.1:p.Tyr246=
NR_027302.1:n.1086T=
XM_006717278.1:c.738T=
XP_006717341.1:p.Tyr246=
XM_011518988.1:c.738T=
XP_011517290.1:p.Tyr246=
XR_929839.1:n.1269T=
NM_001354975.1:c.612T=
NP_001341904.1:p.Tyr204=
NR_149091.1:n.583T=
NR_149092.1:n.749T=
NR_149093.1:n.1275T=
NR_149094.1:n.1169T=
NM_000380.4:c.738T=
MANE Select
NP_000371.1:p.Tyr246=
NM_001354975.2:c.612T=
NP_001341904.1:p.Tyr204=
NR_027302.2:n.1017T=
NR_149091.2:n.514T=
NR_149092.2:n.680T=
NR_149093.2:n.1206T=
NR_149094.2:n.1100T=