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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121864T= , CM000669.2:g.96121864T=
GRCh38
NC_000007.13:g.95751176T= , CM000669.1:g.95751176T=
GRCh37
NC_000007.12:g.95589112T=
NCBI36
NG_012247.1:g.205284A=
NG_012247.2:g.205284A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1725A=
MANE Select
ENSP00000265631.6:p.Pro575=
ENST00000265631.9:c.1725A=
ENSP00000265631.5:p.Pro575=
ENST00000416240.6:c.1728A=
ENSP00000400101.2:p.Pro576=
ENST00000494085.1:n.135A=
NM_001160210.1:c.1728A=
NP_001153682.1:p.Pro576=
NM_014251.2:c.1725A=
NP_055066.1:p.Pro575=
NR_027662.1:n.1800A=
XM_006715831.2:c.1758A=
XP_006715894.1:p.Pro586=
XM_011515728.1:c.873A=
XP_011514030.1:p.Pro291=
XM_006715831.4:c.1758A=
XP_006715894.1:p.Pro586=
XM_017011663.1:c.1716A=
XP_016867152.1:p.Pro572=
XM_017011664.2:c.873A=
XP_016867153.1:p.Pro291=
XM_017011665.1:c.873A=
XP_016867154.1:p.Pro291=
XR_001744525.2:n.1971A=
XR_002956405.1:n.2529A=
NM_014251.3:c.1725A=
MANE Select
NP_055066.1:p.Pro575=
NR_027662.2:n.1751A=
NM_001160210.2:c.1728A=
NP_001153682.1:p.Pro576=