×
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_000016.10:g.2046356T>C , CM000678.2:g.2046356T>C
GRCh38
NC_000016.9:g.2096357T>C , CM000678.1:g.2096357T>C
GRCh37
NC_000016.8:g.2036358T>C
NCBI36
NG_005895.1:g.2051T>C , LRG_487:g.2051T>C
NG_008412.1:g.6511A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651570.2:c.126A>G
MANE Select
ENSP00000498421.1:p.Lys42=
ENST00000651583.1:c.81A>G
ENSP00000498821.1:p.Lys27=
ENST00000219066.5:c.150A>G
ENSP00000219066.1:p.Lys50=
ENST00000561841.1:c.46A>G
ENST00000566380.5:c.89A>G
ENST00000568513.5:c.97A>G
NM_002528.5:c.150A>G
NP_002519.1:p.Lys50=
XM_011522505.1:c.150A>G
XP_011520807.1:p.Lys50=
NM_001318193.1:c.150A>G
NP_001305122.1:p.Lys50=
NM_001318194.1:c.-53A>G
NP_001305123.1:n.-53A>G
NM_002528.6:c.150A>G
NP_002519.1:p.Lys50=
XM_017023253.1:c.150A>G
XP_016878742.1:p.Lys50=
NM_001318193.2:c.126A>G
NP_001305122.2:p.Lys42=
NM_002528.7:c.126A>G
MANE Select
NP_002519.2:p.Lys42=
NM_001318194.2:c.-53A>G
NP_001305123.1:n.-53A>G