×
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_000007.14:g.96121704G= , CM000669.2:g.96121704G=
GRCh38
NC_000007.13:g.95751016G= , CM000669.1:g.95751016G=
GRCh37
NC_000007.12:g.95588952G=
NCBI36
NG_012247.1:g.205444C=
NG_012247.2:g.205444C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1792C=
MANE Select
ENSP00000265631.6:p.Leu598=
ENST00000265631.9:c.1792C=
ENSP00000265631.5:p.Leu598=
ENST00000416240.6:c.1795C=
ENSP00000400101.2:p.Leu599=
ENST00000494085.1:n.295C=
NM_001160210.1:c.1795C=
NP_001153682.1:p.Leu599=
NM_014251.2:c.1792C=
NP_055066.1:p.Leu598=
NR_027662.1:n.1867C=
XM_006715831.2:c.1825C=
XP_006715894.1:p.Leu609=
XM_011515728.1:c.940C=
XP_011514030.1:p.Leu314=
XM_006715831.4:c.1825C=
XP_006715894.1:p.Leu609=
XM_017011663.1:c.1783C=
XP_016867152.1:p.Leu595=
XM_017011664.2:c.940C=
XP_016867153.1:p.Leu314=
XM_017011665.1:c.940C=
XP_016867154.1:p.Leu314=
XR_001744525.2:n.2038C=
XR_002956405.1:n.2596C=
NM_014251.3:c.1792C=
MANE Select
NP_055066.1:p.Leu598=
NR_027662.2:n.1818C=
NM_001160210.2:c.1795C=
NP_001153682.1:p.Leu599=