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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28034183A= , CM000675.2:g.28034183A=
GRCh38
NC_000013.10:g.28608320A= , CM000675.1:g.28608320A=
GRCh37
NC_000013.9:g.27506320A=
NCBI36
NG_007066.1:g.71386T= , LRG_457:g.71386T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.1736T=
MANE Select
ENSP00000241453.7:p.Val579=
ENST00000241453.11:c.1736T=
ENSP00000241453.7:p.Val579=
ENST00000380987.2:c.1736T=
ENSP00000370374.2:p.Val579=
NM_004119.2:c.1736T= , LRG_457t1:c.1736T=
NP_004110.2:p.Val579=
NR_130706.1:n.1818T=
XM_011535015.1:c.1679T=
XP_011533317.1:p.Val560=
XM_011535016.1:c.1211T=
XP_011533318.1:p.Val404=
XM_011535017.1:c.1211T=
XP_011533319.1:p.Val404=
XM_011535018.1:c.1211T=
XP_011533320.1:p.Val404=
XM_011535015.2:c.1679T=
XP_011533317.1:p.Val560=
XM_011535017.2:c.1211T=
XP_011533319.1:p.Val404=
XM_011535018.2:c.1211T=
XP_011533320.1:p.Val404=
XM_017020486.1:c.1520T=
XP_016875975.1:p.Val507=
XM_017020487.1:c.1211T=
XP_016875976.1:p.Val404=
XM_017020488.1:c.857T=
XP_016875977.1:p.Val286=
XM_017020489.1:c.839T=
XP_016875978.1:p.Val280=
NM_004119.3:c.1736T=
MANE Select
NP_004110.2:p.Val579=
NR_130706.2:n.1802T=