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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.18902521C>G , CM000663.2:g.18902521C>G
GRCh38
NC_000001.10:g.19229015C>G , CM000663.1:g.19229015C>G
GRCh37
NC_000001.9:g.19101602C>G
NCBI36
NG_012283.1:g.5279G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375341.8:c.3G>C
MANE Select
ENSP00000364490.3:p.Met1Ile
ENST00000290597.9:c.3G>C
ENSP00000290597.5:p.Met1Ile
ENST00000375341.7:c.3G>C
ENSP00000364490.3:p.Met1Ile
ENST00000432718.1:c.3G>C
ENSP00000393209.1:p.Met1Ile
ENST00000494072.3:c.911+6018G>C
ENST00000538839.5:c.3G>C
ENSP00000446071.1:p.Met1Ile
NM_003748.3:c.3G>C
NP_003739.2:p.Met1Ile
NM_170726.2:c.3G>C
NP_733844.1:p.Met1Ile
XM_011542352.1:c.3G>C
XP_011540654.1:p.Met1Ile
XM_011542353.1:c.3G>C
XP_011540655.1:p.Met1Ile
XR_946786.1:n.60G>C
NM_001319218.1:c.3G>C
NP_001306147.1:p.Met1Ile
XR_001737510.1:n.60G>C
NM_003748.4:c.3G>C
MANE Select
NP_003739.2:p.Met1Ile
NM_170726.3:c.3G>C
NP_733844.1:p.Met1Ile
NM_001319218.2:c.3G>C
NP_001306147.1:p.Met1Ile