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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675571T>G , CM000671.2:g.97675571T>G
GRCh38
NC_000009.11:g.100437853T>G , CM000671.1:g.100437853T>G
GRCh37
NC_000009.10:g.99477674T>G
NCBI36
NG_011642.1:g.26839A>C , LRG_471:g.26839A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.690A>C
MANE Select
ENSP00000364270.5:p.Val230=
ENST00000375128.4:c.690A>C
ENSP00000364270.4:p.Val230=
ENST00000462523.5:c.*126A>C
ENSP00000433006.1:n.*126A>C
ENST00000485042.1:n.202A>C
NM_000380.3:c.690A>C , LRG_471t1:c.690A>C
NP_000371.1:p.Val230=
NR_027302.1:n.1038A>C
XM_006717278.1:c.690A>C
XP_006717341.1:p.Val230=
XM_011518988.1:c.690A>C
XP_011517290.1:p.Val230=
XR_929839.1:n.1221A>C
NM_001354975.1:c.564A>C
NP_001341904.1:p.Val188=
NR_149091.1:n.535A>C
NR_149092.1:n.701A>C
NR_149093.1:n.1227A>C
NR_149094.1:n.1121A>C
NM_000380.4:c.690A>C
MANE Select
NP_000371.1:p.Val230=
NM_001354975.2:c.564A>C
NP_001341904.1:p.Val188=
NR_027302.2:n.969A>C
NR_149091.2:n.466A>C
NR_149092.2:n.632A>C
NR_149093.2:n.1158A>C
NR_149094.2:n.1052A>C