×
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_000017.11:g.8122033G>C , CM000679.2:g.8122033G>C
GRCh38
NC_000017.10:g.8025351G>C , CM000679.1:g.8025351G>C
GRCh37
NC_000017.9:g.7966076G>C
NCBI36
NG_015807.1:g.1884C>G
NG_015816.1:g.7060C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.231C>G
MANE Select
ENSP00000446205.2:p.Ala77=
ENST00000317814.8:c.227-11C>G
ENSP00000314774.4:n.227-11C>G
ENST00000541682.6:c.231C>G
ENSP00000446205.2:p.Ala77=
ENST00000577735.1:c.207C>G
ENSP00000462491.1:p.Ala69=
NM_001165967.1:c.231C>G
NP_001159439.1:p.Ala77=
NM_032580.3:c.227-11C>G
NP_115969.2:n.227-11C>G
XM_011524038.1:c.336C>G
XP_011522340.1:p.Ala112=
XM_011524039.1:c.327C>G
XP_011522341.1:p.Ala109=
XM_011524040.1:c.327C>G
XP_011522342.1:p.Ala109=
XM_011524041.1:c.318C>G
XP_011522343.1:p.Ala106=
XM_011524042.1:c.189C>G
XP_011522344.1:p.Ala63=
XR_934203.1:n.69+2219G>C
XM_017025232.1:c.336C>G
XP_016880721.1:p.Ala112=
XM_024451007.1:c.336C>G
XP_024306775.1:p.Ala112=
NM_001165967.2:c.231C>G
MANE Select
NP_001159439.1:p.Ala77=
NM_032580.4:c.227-11C>G
NP_115969.2:n.227-11C>G