×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.144517639T= , CM000670.2:g.144517639T=
GRCh38
NC_000008.10:g.145743023T= , CM000670.1:g.145743023T=
GRCh37
NC_000008.9:g.145713831T=
NCBI36
NG_016430.1:g.5188A=
NG_033083.1:g.4675T=
NG_016430.2:g.5188A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000617875.6:c.85-4A=
MANE Select
ENSP00000482313.2:n.85-4A=
ENST00000617875.4:c.85-4A=
ENSP00000482313.1:n.85-4A=
ENST00000621189.4:c.-991A=
ENSP00000483145.1:n.-991A=
NM_004260.3:c.85-4A=
NP_004251.3:n.85-4A=
XM_011517380.1:c.85-4A=
XP_011515682.1:n.85-4A=
XM_011517381.1:c.85-4A=
XP_011515683.1:n.85-4A=
XM_011517382.1:c.85-4A=
XP_011515684.1:n.85-4A=
XM_011517383.1:c.85-4A=
XP_011515685.1:n.85-4A=
XM_011517384.1:c.85-4A=
XP_011515686.1:n.85-4A=
XR_928366.1:n.126-4A=
XR_928367.1:n.126-4A=
XR_928368.1:n.128-4A=
XM_011517384.3:c.85-4A=
XP_011515686.1:n.85-4A=
XM_017013991.2:c.85-4A=
XP_016869480.1:n.85-4A=
XM_017013992.2:c.85-4A=
XP_016869481.1:n.85-4A=
XM_017013993.2:c.85-4A=
XP_016869482.1:n.85-4A=
XM_017013994.2:c.85-4A=
XP_016869483.1:n.85-4A=
XM_017013995.2:c.85-4A=
XP_016869484.1:n.85-4A=
XM_017013996.2:c.85-4A=
XP_016869485.1:n.85-4A=
XM_017013997.2:c.85-4A=
XP_016869486.1:n.85-4A=
XM_017013998.1:c.85-4A=
XP_016869487.1:n.85-4A=
XM_017013999.2:c.85-4A=
XP_016869488.1:n.85-4A=
XR_001745626.2:n.122-4A=
XR_001745627.2:n.122-4A=
XR_001745628.2:n.122-4A=
XR_001745629.2:n.122-4A=
XR_001745630.2:n.122-4A=
NM_004260.4:c.85-4A=
MANE Select
NP_004251.4:n.85-4A=