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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.44711086C>T , CM000677.2:g.44711086C>T
GRCh38
NC_000015.9:g.45003284C>T , CM000677.1:g.45003284C>T
GRCh37
NC_000015.8:g.42790576C>T
NCBI36
NG_012920.1:g.4600C>T
NG_012920.2:g.4610C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-320G>A
MANE Select
ENSP00000508024.1:n.-320G>A
ENST00000558573.1:n.231G>A
XM_011521338.1:c.-320G>A
XP_011519640.1:n.-320G>A
XM_011521339.1:c.-201G>A
XP_011519641.1:n.-201G>A
XM_011521340.1:c.-142G>A
XP_011519642.1:n.-142G>A
XM_011521343.1:c.-404G>A
XP_011519645.1:n.-404G>A
XM_011521345.1:c.-375G>A
XP_011519647.1:n.-375G>A
XM_011521338.3:c.-320G>A
XP_011519640.1:n.-320G>A
XM_011521339.3:c.-201G>A
XP_011519641.1:n.-201G>A
XM_011521340.3:c.-142G>A
XP_011519642.1:n.-142G>A
XM_011521343.3:c.-404G>A
XP_011519645.1:n.-404G>A
XM_011521345.3:c.-375G>A
XP_011519647.1:n.-375G>A
NM_001387260.1:c.-76+246G>A
NP_001374189.1:n.-76+246G>A
NM_001387261.1:c.-142G>A
NP_001374190.1:n.-142G>A
NM_001387262.1:c.-410G>A
NP_001374191.1:n.-410G>A
NM_001387263.1:c.-320G>A
MANE Select
NP_001374192.1:n.-320G>A