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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91723833T>G , CM000671.2:g.91723833T>G
GRCh38
NC_000009.11:g.94486115T>G , CM000671.1:g.94486115T>G
GRCh37
NC_000009.10:g.93525936T>G
NCBI36
NG_008089.1:g.231330A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.2661A>C
MANE Select
ENSP00000364860.3:p.Ala887=
ENST00000375708.3:c.2661A>C
ENSP00000364860.3:p.Ala887=
ENST00000375715.5:c.1920+321A>C
ENSP00000364867.1:n.1920+321A>C
ENST00000550066.5:n.3129A>C
NM_004560.3:c.2661A>C
NP_004551.2:p.Ala887=
XM_005252008.3:c.2241A>C
XP_005252065.1:p.Ala747=
XM_005252009.3:c.1458A>C
XP_005252066.1:p.Ala486=
XM_006717121.2:c.2241A>C
XP_006717184.1:p.Ala747=
XM_011518721.1:c.2241A>C
XP_011517023.1:p.Ala747=
XM_005252008.4:c.2241A>C
XP_005252065.1:p.Ala747=
XM_006717121.3:c.2241A>C
XP_006717184.1:p.Ala747=
XM_017014762.1:c.2652A>C
XP_016870251.1:p.Ala884=
XM_017014763.1:c.2241A>C
XP_016870252.1:p.Ala747=
NM_004560.4:c.2661A>C
MANE Select
NP_004551.2:p.Ala887=