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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34517323C>G , CM000671.2:g.34517323C>G
GRCh38
NC_000009.11:g.34517321C>G , CM000671.1:g.34517321C>G
GRCh37
NC_000009.10:g.34507321C>G
NCBI36
NG_008127.1:g.63511C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1857C>G
MANE Select
ENSP00000242317.4:p.Ala619=
ENST00000242317.8:c.1857C>G
ENSP00000242317.4:p.Ala619=
ENST00000442556.1:c.329+2584C>G
ENST00000470169.5:c.645C>G
ENST00000485580.1:n.433C>G
ENST00000614641.4:c.1869C>G
ENSP00000480538.1:p.Ala623=
NM_001281428.1:c.1869C>G
NP_001268357.1:p.Ala623=
NM_012144.3:c.1857C>G
NP_036276.1:p.Ala619=
XM_006716758.2:c.1326C>G
XP_006716821.1:p.Ala442=
XM_011517848.1:c.1611C>G
XP_011516150.1:p.Ala537=
XM_006716758.3:c.1326C>G
XP_006716821.1:p.Ala442=
XM_011517848.2:c.1611C>G
XP_011516150.1:p.Ala537=
XM_017014625.2:c.1599C>G
XP_016870114.1:p.Ala533=
XR_002956774.1:n.1960C>G
NM_012144.4:c.1857C>G
MANE Select
NP_036276.1:p.Ala619=
NM_001281428.2:c.1869C>G
NP_001268357.1:p.Ala623=