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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98926608C>A , CM000668.2:g.98926608C>A
GRCh38
NC_000006.11:g.99374484C>A , CM000668.1:g.99374484C>A
GRCh37
NC_000006.10:g.99481205C>A
NCBI36
NG_033903.1:g.26399G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369244.7:c.381G>T
MANE Select
ENSP00000358247.1:p.Val127=
ENST00000229971.2:c.381G>T
ENSP00000229971.1:p.Val127=
ENST00000369244.6:c.381G>T
ENSP00000358247.1:p.Val127=
NM_001278716.1:c.381G>T
NP_001265645.1:p.Val127=
NM_012160.4:c.381G>T
NP_036292.2:p.Val127=
NR_103836.1:n.772G>T
NR_103837.1:n.772G>T
XM_005266930.1:c.381G>T
XP_005266987.1:p.Val127=
XM_011535748.1:c.381G>T
XP_011534050.1:p.Val127=
XM_005266930.3:c.381G>T
XP_005266987.1:p.Val127=
XM_011535748.3:c.381G>T
XP_011534050.1:p.Val127=
XM_017010726.1:c.381G>T
XP_016866215.1:p.Val127=
XM_017010727.2:c.381G>T
XP_016866216.1:p.Val127=
XM_017010728.1:c.-422G>T
XP_016866217.1:n.-422G>T
NM_001278716.2:c.381G>T
MANE Select
NP_001265645.1:p.Val127=
NR_103836.2:n.712G>T
NR_103837.2:n.712G>T
NM_012160.5:c.381G>T
NP_036292.2:p.Val127=