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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.60150039G>T , CM000679.2:g.60150039G>T
GRCh38
NC_000017.10:g.58227400G>T , CM000679.1:g.58227400G>T
GRCh37
NC_000017.9:g.55582182G>T
NCBI36
NG_012050.1:g.5099G>T
NG_012050.2:g.5099G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000300900.9:c.5G>T
MANE Select
ENSP00000300900.3:p.Arg2Leu
ENST00000300900.8:c.5G>T
ENSP00000300900.3:p.Arg2Leu
ENST00000585705.5:n.98G>T
ENST00000586876.1:c.5G>T
ENSP00000467465.1:p.Arg2Leu
ENST00000591725.1:c.-354G>T
ENSP00000466964.1:n.-354G>T
NM_000717.3:c.5G>T
NP_000708.1:p.Arg2Leu
XM_005257639.1:c.5G>T
XP_005257696.1:p.Arg2Leu
NM_000717.4:c.5G>T
NP_000708.1:p.Arg2Leu
NR_137422.1:n.104G>T
XM_005257639.3:c.5G>T
XP_005257696.1:p.Arg2Leu
XR_001752604.2:n.98G>T
XR_001752605.2:n.98G>T
XR_001752606.2:n.98G>T
XR_001752607.2:n.98G>T
XR_001752608.2:n.98G>T
XR_001752609.2:n.98G>T
XR_001752610.2:n.98G>T
NM_000717.5:c.5G>T
MANE Select
NP_000708.1:p.Arg2Leu
NR_137422.2:n.67G>T