×
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_000006.12:g.98926953G>C , CM000668.2:g.98926953G>C
GRCh38
NC_000006.11:g.99374829G>C , CM000668.1:g.99374829G>C
GRCh37
NC_000006.10:g.99481550G>C
NCBI36
NG_033903.1:g.26054C>G
Transcript Alleles
HGVS
Amino-acid Change
NM_001278716.2:c.36C>G
MANE Select
NP_001265645.1:p.Thr12=
ENST00000369244.7:c.36C>G
MANE Select
ENSP00000358247.1:p.Thr12=
NM_001278716.1:c.36C>G
NP_001265645.1:p.Thr12=
NM_012160.4:c.36C>G
NP_036292.2:p.Thr12=
NM_012160.5:c.36C>G
NP_036292.2:p.Thr12=
NR_103836.1:n.427C>G
NR_103836.2:n.367C>G
NR_103837.1:n.427C>G
NR_103837.2:n.367C>G
ENST00000229971.2:c.36C>G
ENSP00000229971.1:p.Thr12=
ENST00000369244.6:c.36C>G
ENSP00000358247.1:p.Thr12=
XM_005266930.1:c.36C>G
XP_005266987.1:p.Thr12=
XM_005266930.3:c.36C>G
XP_005266987.1:p.Thr12=
XM_011535748.1:c.36C>G
XP_011534050.1:p.Thr12=
XM_011535748.3:c.36C>G
XP_011534050.1:p.Thr12=
XM_017010726.1:c.36C>G
XP_016866215.1:p.Thr12=
XM_017010727.2:c.36C>G
XP_016866216.1:p.Thr12=
XM_017010728.1:c.-767C>G
XP_016866217.1:n.-767C>G