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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.44711020C= , CM000677.2:g.44711020C=
GRCh38
NC_000015.9:g.45003218C= , CM000677.1:g.45003218C=
GRCh37
NC_000015.8:g.42790510C=
NCBI36
NG_012920.1:g.4534C=
NG_012920.2:g.4544C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-254G=
MANE Select
ENSP00000508024.1:n.-254G=
ENST00000558573.1:n.297G=
XM_011521338.1:c.-254G=
XP_011519640.1:n.-254G=
XM_011521339.1:c.-135G=
XP_011519641.1:n.-135G=
XM_011521340.1:c.-76G=
XP_011519642.1:n.-76G=
XM_011521343.1:c.-338G=
XP_011519645.1:n.-338G=
XM_011521345.1:c.-309G=
XP_011519647.1:n.-309G=
XM_011521338.3:c.-254G=
XP_011519640.1:n.-254G=
XM_011521339.3:c.-135G=
XP_011519641.1:n.-135G=
XM_011521340.3:c.-76G=
XP_011519642.1:n.-76G=
XM_011521343.3:c.-338G=
XP_011519645.1:n.-338G=
XM_011521345.3:c.-309G=
XP_011519647.1:n.-309G=
NM_001387260.1:c.-76+312G=
NP_001374189.1:n.-76+312G=
NM_001387261.1:c.-76G=
NP_001374190.1:n.-76G=
NM_001387262.1:c.-344G=
NP_001374191.1:n.-344G=
NM_001387263.1:c.-254G=
MANE Select
NP_001374192.1:n.-254G=