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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96321951C>A , CM000669.2:g.96321951C>A
GRCh38
NC_000007.13:g.95951263C>A , CM000669.1:g.95951263C>A
GRCh37
NC_000007.12:g.95789199C>A
NCBI36
NG_012247.1:g.5197G>T
NG_012247.2:g.5197G>T
Transcript Alleles
HGVS
Amino-acid Change
NM_014251.3:c.6G>T
MANE Select
NP_055066.1:p.Ala2=
ENST00000265631.10:c.6G>T
MANE Select
ENSP00000265631.6:p.Ala2=
NM_001160210.1:c.6G>T
NP_001153682.1:p.Ala2=
NM_001160210.2:c.6G>T
NP_001153682.1:p.Ala2=
NM_014251.2:c.6G>T
NP_055066.1:p.Ala2=
NR_027662.1:n.197G>T
NR_027662.2:n.148G>T
ENST00000265631.9:c.6G>T
ENSP00000265631.5:p.Ala2=
ENST00000416240.6:c.6G>T
ENSP00000400101.2:p.Ala2=
ENST00000472162.2:c.6G>T
ENSP00000473505.1:p.Ala2=
XM_011515727.3:c.-116G>T
XP_011514029.1:n.-116G>T
XM_017011664.2:c.-753G>T
XP_016867153.1:n.-753G>T
XM_017011665.1:c.-637G>T
XP_016867154.1:n.-637G>T
XR_001744525.2:n.177G>T
XR_002956405.1:n.165G>T