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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.145639137A= , CM000666.2:g.145639137A=
GRCh38
NC_000004.11:g.146560289A= , CM000666.1:g.146560289A=
GRCh37
NC_000004.10:g.146779739A=
NCBI36
NG_007536.1:g.24840A=
NG_007536.2:g.45096A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541599.5:c.-3A=
ENSP00000442284.3:n.-3A=
ENST00000647947.1:c.-3A=
ENSP00000496781.1:n.-3A=
ENST00000648388.1:c.-3A=
ENSP00000497046.1:n.-3A=
ENST00000649156.2:c.-3A=
MANE Select
ENSP00000497008.1:n.-3A=
ENST00000649173.1:c.-3A=
ENSP00000497871.1:n.-3A=
ENST00000649704.1:c.-3A=
ENSP00000497680.1:n.-3A=
ENST00000679563.1:c.-3A=
ENSP00000506503.1:n.-3A=
ENST00000679930.1:c.-3A=
ENSP00000506293.1:n.-3A=
ENST00000281317.9:c.-3A=
ENSP00000281317.5:n.-3A=
ENST00000506919.1:n.486A=
ENST00000511969.4:c.-3A=
ENSP00000427422.1:n.-3A=
ENST00000541599.4:c.-3A=
ENSP00000442284.2:n.-3A=
NM_172250.2:c.-3A=
NP_758454.1:n.-3A=
XM_011531684.1:c.-3A=
XP_011529986.1:n.-3A=
XM_011531685.1:c.-3A=
XP_011529987.1:n.-3A=
NM_172250.3:c.-3A=
MANE Select
NP_758454.1:n.-3A=
XM_011531684.3:c.-3A=
XP_011529986.1:n.-3A=
XM_011531685.2:c.-3A=
XP_011529987.1:n.-3A=
XM_011531686.2:c.-786A=
XP_011529988.1:n.-786A=
NM_001375644.1:c.-3A=
NP_001362573.1:n.-3A=