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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.51784071C>A , CM000682.2:g.51784071C>A
GRCh38
NC_000020.10:g.50400610C>A , CM000682.1:g.50400610C>A
GRCh37
NC_000020.9:g.49834017C>A
NCBI36
NG_008000.1:g.23439G>T , LRG_675:g.23439G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000217086.9:c.*194G>T
MANE Select
ENSP00000217086.4:n.*194G>T
ENST00000217086.8:c.*194G>T
ENSP00000217086.4:n.*194G>T
ENST00000371539.7:c.*194G>T
ENSP00000360594.3:n.*194G>T
NM_020436.3:c.*194G>T , LRG_675t1:c.*194G>T
NP_065169.1:n.*194G>T
XM_005260467.2:c.*194G>T
XP_005260524.1:n.*194G>T
XM_006723834.2:c.*194G>T
XP_006723897.1:n.*194G>T
XM_011528919.1:c.*194G>T
XP_011527221.1:n.*194G>T
XM_011528920.1:c.*194G>T
XP_011527222.1:n.*194G>T
XM_011528921.1:c.*194G>T
XP_011527223.1:n.*194G>T
XM_011528922.1:c.*194G>T
XP_011527224.1:n.*194G>T
XM_011528923.1:c.*194G>T
XP_011527225.1:n.*194G>T
NM_001318031.1:c.*194G>T
NP_001304960.1:n.*194G>T
NM_020436.4:c.*194G>T
NP_065169.1:n.*194G>T
XM_005260467.4:c.*194G>T
XP_005260524.1:n.*194G>T
XM_011528921.2:c.*194G>T
XP_011527223.1:n.*194G>T
XM_011528922.2:c.*194G>T
XP_011527224.1:n.*194G>T
NM_020436.5:c.*194G>T
MANE Select
NP_065169.1:n.*194G>T
NM_001318031.2:c.*194G>T
NP_001304960.1:n.*194G>T