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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.31533768T>C , CM000664.2:g.31533768T>C
GRCh38
NC_000002.11:g.31758838T>C , CM000664.1:g.31758838T>C
GRCh37
NC_000002.10:g.31612342T>C
NCBI36
NG_008365.1:g.52204A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_000348.4:c.282-2A>G
MANE Select
NP_000339.2:n.282-2A>G
ENST00000622030.2:c.282-2A>G
MANE Select
ENSP00000477587.1:n.282-2A>G
NM_000348.3:c.282-2A>G
NP_000339.2:n.282-2A>G
ENST00000622030.1:c.282-2A>G
ENSP00000477587.1:n.282-2A>G
XM_011533068.1:c.282-2A>G
XP_011531370.1:n.282-2A>G
XM_011533069.1:c.60-2A>G
XP_011531371.1:n.60-2A>G
XM_011533069.2:c.60-2A>G
XP_011531371.1:n.60-2A>G
XM_011533070.1:c.27-2A>G
XP_011531372.1:n.27-2A>G
XM_011533071.1:c.27-2A>G
XP_011531373.1:n.27-2A>G
XM_011533072.1:c.27-2A>G
XP_011531374.1:n.27-2A>G
XM_011533072.2:c.27-2A>G
XP_011531374.1:n.27-2A>G