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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91757411C>T , CM000671.2:g.91757411C>T
GRCh38
NC_000009.11:g.94519693C>T , CM000671.1:g.94519693C>T
GRCh37
NC_000009.10:g.93559514C>T
NCBI36
NG_008089.1:g.197752G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.324G>A
MANE Select
ENSP00000364860.3:p.Arg108=
ENST00000375708.3:c.324G>A
ENSP00000364860.3:p.Arg108=
ENST00000375715.5:c.-97G>A
ENSP00000364867.1:n.-97G>A
ENST00000495386.5:n.587G>A
ENST00000548585.2:n.172+18G>A
ENST00000550066.5:n.792G>A
NM_004560.3:c.324G>A
NP_004551.2:p.Arg108=
XM_005252008.3:c.-97G>A
XP_005252065.1:n.-97G>A
XM_006717121.2:c.-97G>A
XP_006717184.1:n.-97G>A
XM_011518721.1:c.-97G>A
XP_011517023.1:n.-97G>A
NM_001318204.1:c.324G>A
NP_001305133.1:p.Arg108=
XM_005252008.4:c.-97G>A
XP_005252065.1:n.-97G>A
XM_006717121.3:c.-97G>A
XP_006717184.1:n.-97G>A
XM_017014762.1:c.315G>A
XP_016870251.1:p.Arg105=
XM_017014763.1:c.-97G>A
XP_016870252.1:n.-97G>A
XR_001746315.1:n.567G>A
NM_004560.4:c.324G>A
MANE Select
NP_004551.2:p.Arg108=
NM_001318204.2:c.324G>A
NP_001305133.1:p.Arg108=