×
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.29942547G= , CM000668.2:g.29942547G=
GRCh38
NC_000006.11:g.29910324G= , CM000668.1:g.29910324G=
GRCh37
NC_000006.10:g.30018303G=
NCBI36
NG_029217.2:g.5082G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000706892.1:n.270G=
ENST00000706893.1:c.-7G=
ENSP00000516609.1:n.-7G=
ENST00000706894.1:c.-7G=
ENSP00000516610.1:n.-7G=
ENST00000706895.1:n.270G=
ENST00000706896.1:n.270G=
ENST00000706897.1:n.270G=
ENST00000706898.1:c.-7G=
ENSP00000516611.1:n.-7G=
ENST00000706899.1:n.270G=
ENST00000706901.1:c.-7G=
ENSP00000516612.1:n.-7G=
ENST00000706902.1:c.-7G=
ENSP00000516613.1:n.-7G=
ENST00000706903.1:c.-7G=
ENSP00000516614.1:n.-7G=
ENST00000706904.1:c.-7G=
ENSP00000516615.1:n.-7G=
ENST00000706905.1:c.-7G=
ENSP00000516616.1:n.-7G=
ENST00000376809.10:c.-7G=
MANE Select
ENSP00000366005.5:n.-7G=
ENST00000376806.9:c.-7G=
ENSP00000366002.5:n.-7G=
ENST00000376809.9:c.-7G=
ENSP00000366005.5:n.-7G=
ENST00000396634.5:c.-7G=
ENSP00000379873.1:n.-7G=
ENST00000429656.1:n.521C=
NM_002116.7:c.-7G=
NP_002107.3:n.-7G=
NM_002116.8:c.-7G=
MANE Select
NP_002107.3:n.-7G=