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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.44711076T>C , CM000677.2:g.44711076T>C
GRCh38
NC_000015.9:g.45003274T>C , CM000677.1:g.45003274T>C
GRCh37
NC_000015.8:g.42790566T>C
NCBI36
NG_012920.1:g.4590T>C
NG_012920.2:g.4600T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-310A>G
MANE Select
ENSP00000508024.1:n.-310A>G
ENST00000558573.1:n.241A>G
XM_011521338.1:c.-310A>G
XP_011519640.1:n.-310A>G
XM_011521339.1:c.-191A>G
XP_011519641.1:n.-191A>G
XM_011521340.1:c.-132A>G
XP_011519642.1:n.-132A>G
XM_011521343.1:c.-394A>G
XP_011519645.1:n.-394A>G
XM_011521345.1:c.-365A>G
XP_011519647.1:n.-365A>G
XM_011521338.3:c.-310A>G
XP_011519640.1:n.-310A>G
XM_011521339.3:c.-191A>G
XP_011519641.1:n.-191A>G
XM_011521340.3:c.-132A>G
XP_011519642.1:n.-132A>G
XM_011521343.3:c.-394A>G
XP_011519645.1:n.-394A>G
XM_011521345.3:c.-365A>G
XP_011519647.1:n.-365A>G
NM_001387260.1:c.-76+256A>G
NP_001374189.1:n.-76+256A>G
NM_001387261.1:c.-132A>G
NP_001374190.1:n.-132A>G
NM_001387262.1:c.-400A>G
NP_001374191.1:n.-400A>G
NM_001387263.1:c.-310A>G
MANE Select
NP_001374192.1:n.-310A>G