×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.107634479C= , CM000668.2:g.107634479C=
GRCh38
NC_000006.11:g.107955683C= , CM000668.1:g.107955683C=
GRCh37
NC_000006.10:g.108062376C=
NCBI36
NG_028200.1:g.149367C=
NG_028200.2:g.149367C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317357.10:c.1635C=
MANE Select
ENSP00000318900.5:p.His545=
ENST00000317357.9:c.1635C=
ENSP00000318900.5:p.His545=
NM_018013.3:c.1635C=
NP_060483.3:p.His545=
XM_005267041.3:c.1788C=
XP_005267098.1:p.His596=
XM_005267042.3:c.1692C=
XP_005267099.1:p.His564=
XM_011535920.1:c.1788C=
XP_011534222.1:p.His596=
XM_011535921.1:c.1674C=
XP_011534223.1:p.His558=
XM_011535922.1:c.1047C=
XP_011534224.1:p.His349=
XM_011535923.1:c.858C=
XP_011534225.1:p.His286=
XM_005267041.4:c.1788C=
XP_005267098.1:p.His596=
XM_005267042.4:c.1692C=
XP_005267099.1:p.His564=
XM_011535920.2:c.1788C=
XP_011534222.1:p.His596=
XM_011535921.2:c.1674C=
XP_011534223.1:p.His558=
XM_011535923.2:c.858C=
XP_011534225.1:p.His286=
XM_017010991.1:c.1188C=
XP_016866480.1:p.His396=
XM_017010992.1:c.1188C=
XP_016866481.1:p.His396=
XM_017010993.1:c.1188C=
XP_016866482.1:p.His396=
XM_017010994.1:c.1188C=
XP_016866483.1:p.His396=
NM_018013.4:c.1635C=
MANE Select
NP_060483.3:p.His545=