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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675518G= , CM000671.2:g.97675518G=
GRCh38
NC_000009.11:g.100437800G= , CM000671.1:g.100437800G=
GRCh37
NC_000009.10:g.99477621G=
NCBI36
NG_011642.1:g.26892C= , LRG_471:g.26892C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.743C=
MANE Select
ENSP00000364270.5:p.Pro248=
ENST00000375128.4:c.743C=
ENSP00000364270.4:p.Pro248=
ENST00000462523.5:c.*179C=
ENSP00000433006.1:n.*179C=
ENST00000485042.1:n.255C=
NM_000380.3:c.743C= , LRG_471t1:c.743C=
NP_000371.1:p.Pro248=
NR_027302.1:n.1091C=
XM_006717278.1:c.743C=
XP_006717341.1:p.Pro248=
XM_011518988.1:c.743C=
XP_011517290.1:p.Pro248=
XR_929839.1:n.1274C=
NM_001354975.1:c.617C=
NP_001341904.1:p.Pro206=
NR_149091.1:n.588C=
NR_149092.1:n.754C=
NR_149093.1:n.1280C=
NR_149094.1:n.1174C=
NM_000380.4:c.743C=
MANE Select
NP_000371.1:p.Pro248=
NM_001354975.2:c.617C=
NP_001341904.1:p.Pro206=
NR_027302.2:n.1022C=
NR_149091.2:n.519C=
NR_149092.2:n.685C=
NR_149093.2:n.1211C=
NR_149094.2:n.1105C=