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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.60150094T= , CM000679.2:g.60150094T=
GRCh38
NC_000017.10:g.58227455T= , CM000679.1:g.58227455T=
GRCh37
NC_000017.9:g.55582237T=
NCBI36
NG_012050.1:g.5154T=
NG_012050.2:g.5154T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000300900.9:c.58+2T=
MANE Select
ENSP00000300900.3:n.58+2T=
ENST00000300900.8:c.58+2T=
ENSP00000300900.3:n.58+2T=
ENST00000585705.5:n.151+2T=
ENST00000586876.1:c.58+2T=
ENSP00000467465.1:n.58+2T=
ENST00000591725.1:c.-301+2T=
ENSP00000466964.1:n.-301+2T=
NM_000717.3:c.58+2T=
NP_000708.1:n.58+2T=
XM_005257639.1:c.58+2T=
XP_005257696.1:n.58+2T=
NM_000717.4:c.58+2T=
NP_000708.1:n.58+2T=
NR_137422.1:n.157+2T=
XM_005257639.3:c.58+2T=
XP_005257696.1:n.58+2T=
XR_001752604.2:n.151+2T=
XR_001752605.2:n.151+2T=
XR_001752606.2:n.151+2T=
XR_001752607.2:n.151+2T=
XR_001752608.2:n.151+2T=
XR_001752609.2:n.151+2T=
XR_001752610.2:n.151+2T=
NM_000717.5:c.58+2T=
MANE Select
NP_000708.1:n.58+2T=
NR_137422.2:n.120+2T=