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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.42731307C= , CM000677.2:g.42731307C=
GRCh38
NC_000015.9:g.43023505C= , CM000677.1:g.43023505C=
GRCh37
NC_000015.8:g.40810797C=
NCBI36
NG_012491.1:g.10913G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356231.4:c.1764G=
MANE Select
ENSP00000348564.3:p.Met588=
ENST00000643434.1:c.*942G=
ENSP00000494699.1:n.*942G=
ENST00000356231.3:c.1764G=
ENSP00000348564.3:p.Met588=
NM_138477.2:c.1764G=
NP_612486.2:p.Met588=
XM_005254176.3:c.1767G=
XP_005254233.1:p.Met589=
XM_011521270.1:c.1791G=
XP_011519572.1:p.Met597=
XM_011521271.1:c.1788G=
XP_011519573.1:p.Met596=
XM_011521272.1:c.1791G=
XP_011519574.1:p.Met597=
XM_011521273.1:c.1791G=
XP_011519575.1:p.Met597=
XM_011521274.1:c.756G=
XP_011519576.1:p.Met252=
XM_011521275.1:c.1008G=
XP_011519577.1:p.Met336=
XR_931757.1:n.1802G=
NM_138477.4:c.1764G=
MANE Select
NP_612486.2:p.Met588=
XM_005254176.5:c.1767G=
XP_005254233.1:p.Met589=
XM_011521270.2:c.1791G=
XP_011519572.1:p.Met597=
XM_011521271.2:c.1788G=
XP_011519573.1:p.Met596=
XM_011521274.2:c.756G=
XP_011519576.1:p.Met252=
XR_001751104.1:n.1821G=
XR_001751105.1:n.1821G=
XR_931757.2:n.1822G=