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SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500 Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41004015T>C , CM000681.2:g.41004015T>C
GRCh38
NC_000019.9:g.41509920T>C , CM000681.1:g.41509920T>C
GRCh37
NC_000019.8:g.46201760T>C
NCBI36
NG_007929.1:g.17717T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_000767.5:c.186T>C
MANE Select
NP_000758.1:p.Tyr62=
ENST00000324071.10:c.186T>C
MANE Select
ENSP00000324648.2:p.Tyr62=
NM_000767.4:c.186T>C
NP_000758.1:p.Tyr62=
ENST00000324071.8:c.186T>C
ENSP00000324648.2:p.Tyr62=
ENST00000593831.1:c.-43T>C
ENSP00000470582.1:n.-43T>C
ENST00000598834.1:n.88T>C
ENST00000598834.2:c.88T>C
XM_005258569.3:c.186T>C
XP_005258626.1:p.Tyr62=
XM_006723050.2:c.186T>C
XP_006723113.1:p.Tyr62=
XM_011526546.1:c.186T>C
XP_011524848.1:p.Tyr62=
XM_011526547.1:c.186T>C
XP_011524849.1:p.Tyr62=
XM_011526548.1:c.186T>C
XP_011524850.1:p.Tyr62=
XM_011526550.1:c.66T>C
XP_011524852.1:p.Tyr22=