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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675556C= , CM000671.2:g.97675556C=
GRCh38
NC_000009.11:g.100437838C= , CM000671.1:g.100437838C=
GRCh37
NC_000009.10:g.99477659C=
NCBI36
NG_011642.1:g.26854G= , LRG_471:g.26854G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.705G=
MANE Select
ENSP00000364270.5:p.Trp235=
ENST00000375128.4:c.705G=
ENSP00000364270.4:p.Trp235=
ENST00000462523.5:c.*141G=
ENSP00000433006.1:n.*141G=
ENST00000485042.1:n.217G=
NM_000380.3:c.705G= , LRG_471t1:c.705G=
NP_000371.1:p.Trp235=
NR_027302.1:n.1053G=
XM_006717278.1:c.705G=
XP_006717341.1:p.Trp235=
XM_011518988.1:c.705G=
XP_011517290.1:p.Trp235=
XR_929839.1:n.1236G=
NM_001354975.1:c.579G=
NP_001341904.1:p.Trp193=
NR_149091.1:n.550G=
NR_149092.1:n.716G=
NR_149093.1:n.1242G=
NR_149094.1:n.1136G=
NM_000380.4:c.705G=
MANE Select
NP_000371.1:p.Trp235=
NM_001354975.2:c.579G=
NP_001341904.1:p.Trp193=
NR_027302.2:n.984G=
NR_149091.2:n.481G=
NR_149092.2:n.647G=
NR_149093.2:n.1173G=
NR_149094.2:n.1067G=