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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.60150073G>A , CM000679.2:g.60150073G>A
GRCh38
NC_000017.10:g.58227434G>A , CM000679.1:g.58227434G>A
GRCh37
NC_000017.9:g.55582216G>A
NCBI36
NG_012050.1:g.5133G>A
NG_012050.2:g.5133G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000300900.9:c.39G>A
MANE Select
ENSP00000300900.3:p.Ala13=
ENST00000300900.8:c.39G>A
ENSP00000300900.3:p.Ala13=
ENST00000585705.5:n.132G>A
ENST00000586876.1:c.39G>A
ENSP00000467465.1:p.Ala13=
ENST00000591725.1:c.-320G>A
ENSP00000466964.1:n.-320G>A
NM_000717.3:c.39G>A
NP_000708.1:p.Ala13=
XM_005257639.1:c.39G>A
XP_005257696.1:p.Ala13=
NM_000717.4:c.39G>A
NP_000708.1:p.Ala13=
NR_137422.1:n.138G>A
XM_005257639.3:c.39G>A
XP_005257696.1:p.Ala13=
XR_001752604.2:n.132G>A
XR_001752605.2:n.132G>A
XR_001752606.2:n.132G>A
XR_001752607.2:n.132G>A
XR_001752608.2:n.132G>A
XR_001752609.2:n.132G>A
XR_001752610.2:n.132G>A
NM_000717.5:c.39G>A
MANE Select
NP_000708.1:p.Ala13=
NR_137422.2:n.101G>A